Current Environment: Production

Gerard Berry | Medical Services

Programs & Services

Languages

  • English

Gerard Berry | Education

Undergraduate School

Pre-Med

University of Notre Dame

1971, Notre Dame, IN

Medical School

Jefferson Medical College

1975, Philadelphia, PA

Residency

Pediatrics

Thomas Jefferson University Hospital

1978, Philadelphia, PA

Fellowship

Biochemical Genetics; Pediatric Endocrinology

Children's Hospital of Philadelphia

1981, Philadelphia, PA

Gerard Berry | Certifications

  • American Board of Medical Genetics and Genomics (Clinical Genetics)
  • American Board of Pediatrics (Endocrinology)
  • American Board of Pediatrics (General)

Gerard Berry | Publications

  1. The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones. Genet Med. 2024 Sep 21; 27(1):101281. View The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones. Abstract

  2. Health and well-being of maturing adults with classic galactosemia. J Inherit Metab Dis. 2024 Aug 14. View Health and well-being of maturing adults with classic galactosemia. Abstract

  3. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108541. View Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Abstract

  4. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509. View Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Abstract

  5. Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. JCI Insight. 2024 Feb 22; 9(4). View Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. Abstract

  6. Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Front Genet. 2024; 15:1355962. View Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Abstract

  7. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Mol Genet Metab. 2023 11; 140(3):107693. View The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Abstract

  8. Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. Mol Genet Metab. 2023 11; 140(3):107682. View Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. Abstract

  9. Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. J Inherit Metab Dis. 2023 09; 46(5):943-955. View Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. Abstract

  10. The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 2023 03 01; 29(2):246-258. View The hypergonadotropic hypogonadism conundrum of classic galactosemia. Abstract

  11. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. J Inherit Metab Dis. 2022 11; 45(6):1106-1117. View A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. Abstract

  12. Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet J Rare Dis. 2022 09 02; 17(1):331. View Galactose epimerase deficiency: lessons from the GalNet registry. Abstract

  13. Pathophysiology of long-term complications in classic galactosemia: What we do and do not know. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):33-39. View Pathophysiology of long-term complications in classic galactosemia: What we do and do not know. Abstract

  14. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. View A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Abstract

  15. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. View Genetic Determinants of Sudden Unexpected Death in Pediatrics. Abstract

  16. The development of end stage renal disease in two patients with PMM2-CDG. JIMD Rep. 2022 Mar; 63(2):131-136. View The development of end stage renal disease in two patients with PMM2-CDG. Abstract

  17. Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. JIMD Rep. 2021 Nov; 62(1):30-34. View Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. Abstract

  18. Transient developmental delays in infants with Duarte-2 variant galactosemia. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):132-138. View Transient developmental delays in infants with Duarte-2 variant galactosemia. Abstract

  19. A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. Ophthalmic Genet. 2021 10; 42(5):612-614. View A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome. Abstract

  20. Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia. Mol Genet Metab Rep. 2021 Jun; 27:100742. View Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia. Abstract

  21. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Epilepsia. 2021 02; 62(2):335-336. View Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Abstract

  22. [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. JIMD Rep. 2021 May; 59(1):104-109. View [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. Abstract

  23. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Abstract

  24. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. View Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Abstract

  25. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis. 2021 01; 44(1):253-263. View Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. Abstract

  26. Galactokinase deficiency: lessons from the GalNet registry. Genet Med. 2021 01; 23(1):202-210. View Galactokinase deficiency: lessons from the GalNet registry. Abstract

  27. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172. View A retrospective study of adult patients with noncirrhotic hyperammonemia. Abstract

  28. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. View Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Abstract

  29. Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. J Inherit Metab Dis. 2020 11; 43(6):1205-1218. View Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. Abstract

  30. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 06; 182(6):1426-1437. View Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Abstract

  31. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. View The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. Abstract

  32. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. J Inherit Metab Dis. 2020 07; 43(4):880-890. View An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. Abstract

  33. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. J Inherit Metab Dis. 2020 05; 43(3):392-408. View Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. Abstract

  34. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol. 2020 03; 145(3):1008-1011. View Defining a new immune deficiency syndrome: MAN2B2-CDG. Abstract

  35. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. JIMD Rep. 2019 Jul; 48(1):26-35. View A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. Abstract

  36. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128. View Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Abstract

  37. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019 04 27; 14(1):86. View The natural history of classic galactosemia: lessons from the GalNet registry. Abstract

  38. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. View Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. Abstract

  39. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376. View The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Abstract

  40. Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis. 2019 01; 42(1):169-177. View Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). Abstract

  41. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018 Dec 20; 3(3-4):157-170. View Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Abstract

  42. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776. View Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Abstract

  43. Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability. Clin Chem. 2018 12; 64(12):1785-1787. View Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability. Abstract

  44. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 11 26; 13(1):212. View Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Abstract

  45. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560. View Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Abstract

  46. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 11; 84(5):766-780. View KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Abstract

  47. Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. Clin Chem. 2018 08; 64(8):1260-1262. View Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. Abstract

  48. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2. View Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. Abstract

  49. Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). J Inherit Metab Dis. 2018 Jul 09. View Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). Abstract

  50. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Abstract

  51. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. View De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Abstract

  52. Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View Acute Illness Protocol for Urea Cycle Disorders. Abstract

  53. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. View Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Abstract

  54. Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am. 2018 04; 65(2):337-352. View Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Abstract

  55. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018 05; 124(1):82-86. View Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Abstract

  56. Focal Hepatic Glycogenosis in a Patient With Uncontrolled Diabetes Mellitus Type 1. J Comput Assist Tomogr. 2018 Mar/Apr; 42(2):230-235. View Focal Hepatic Glycogenosis in a Patient With Uncontrolled Diabetes Mellitus Type 1. Abstract

  57. Hereditary galactosemia. Metabolism. 2018 06; 83:188-196. View Hereditary galactosemia. Abstract

  58. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View Acute Illness Protocol for Maple Syrup Urine Disease. Abstract

  59. Impaired fertility and motor function in a zebrafish model for classic galactosemia. J Inherit Metab Dis. 2018 01; 41(1):117-127. View Impaired fertility and motor function in a zebrafish model for classic galactosemia. Abstract

  60. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. Abstract

  61. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. Abstract

  62. High serum serotonin in sudden infant death syndrome. Proc Natl Acad Sci U S A. 2017 07 18; 114(29):7695-7700. View High serum serotonin in sudden infant death syndrome. Abstract

  63. Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertil Steril. 2017 07; 108(1):168-174. View Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Abstract

  64. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Abstract

  65. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Abstract

  66. Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation. Mol Genet Metab Rep. 2017 Sep; 12:1. View Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation. Abstract

  67. UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Mol Genet Metab. 2017 04; 120(4):370-377. View UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. Abstract

  68. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Abstract

  69. IP3 accumulation and/or inositol depletion: two downstream lithium's effects that may mediate its behavioral and cellular changes. Transl Psychiatry. 2016 12 06; 6(12):e968. View IP3 accumulation and/or inositol depletion: two downstream lithium's effects that may mediate its behavioral and cellular changes. Abstract

  70. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017 03; 40(2):171-176. View International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Abstract

  71. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222. View Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Abstract

  72. The galactosemia network (GalNet). J Inherit Metab Dis. 2017 03; 40(2):169-170. View The galactosemia network (GalNet). Abstract

  73. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. Abstract

  74. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. View A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Abstract

  75. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113. View Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. Abstract

  76. Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. JIMD Rep. 2017; 32:25-32. View Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. Abstract

  77. A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). View A 10-Month-Old With Intermittent Hypotonia and Paralysis. Abstract

  78. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31:73-77. View N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. Abstract

  79. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. View ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Abstract

  80. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111. View Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. Abstract

  81. Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. Biochem Biophys Res Commun. 2016 Jan 29; 470(1):205-212. View Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. Abstract

  82. Galactose metabolism and health. Curr Opin Clin Nutr Metab Care. 2015 Jul; 18(4):422-7. View Galactose metabolism and health. Abstract

  83. CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. JIMD Rep. 2015; 24:91-6. View CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. Abstract

  84. A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. JIMD Rep. 2015; 19:1-6. View A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. Abstract

  85. Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. View Menkes disease in affected females: the clinical disease spectrum. Abstract

  86. The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014; 17:37-9. View The complexity of newborn screening follow-up in phenylketonuria. Abstract

  87. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Copy number variation plays an important role in clinical epilepsy. Abstract

  88. Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol. 2014 Nov; 29(11):2139-46. View Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Abstract

  89. Mesothelioma risk after 40 years since first exposure to asbestos: a pooled analysis. Thorax. 2014 Sep; 69(9):843-50. View Mesothelioma risk after 40 years since first exposure to asbestos: a pooled analysis. Abstract

  90. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014 Jul; 112(3):191-7. View A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Abstract

  91. Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. JPEN J Parenter Enteral Nutr. 2015 Sep; 39(7):875-9. View Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. Abstract

  92. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. View Phenylketonuria Scientific Review Conference: state of the science and future research needs. Abstract

  93. KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability. Sci Signal. 2014 Mar 04; 7(315):ra22. View KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability. Abstract

  94. Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers. Clin Chem. 2014 May; 60(5):783-90. View Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers. Abstract

  95. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. View A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Abstract

  96. Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. J Agric Food Chem. 2014 Feb 12; 62(6):1397-402. View Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. Abstract

  97. Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study. Kidney Int. 2014 May; 85(5):1214-24. View Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study. Abstract

  98. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013 Nov 28; 122(23):3845-7. View Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Abstract

  99. Inositol-related gene knockouts mimic lithium's effect on mitochondrial function. Neuropsychopharmacology. 2014 Jan; 39(2):319-28. View Inositol-related gene knockouts mimic lithium's effect on mitochondrial function. Abstract

  100. Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A. 2013 Aug 13; 110(33):13552-7. View Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Abstract

  101. Fertility preservation in female classic galactosemia patients. Orphanet J Rare Dis. 2013 Jul 16; 8:107. View Fertility preservation in female classic galactosemia patients. Abstract

  102. Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report. Forensic Sci Med Pathol. 2013 Sep; 9(3):418-21. View Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report. Abstract

  103. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 07; 80(19):1762-70. View Targeted exome sequencing of suspected mitochondrial disorders. Abstract

  104. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013 May; 54(5):e81-5. View Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Abstract

  105. Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizures. PLoS One. 2013; 8(3):e57148. View Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizures. Abstract

  106. Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1157. View Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. Abstract

  107. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis. 2013 Sep; 36(5):779-86. View The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. Abstract

  108. Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. Clin Biochem. 2012 Dec; 45(18):1583-6. View Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. Abstract

  109. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Abstract

  110. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Mol Genet Metab. 2012 Aug; 106(4):442-54. View N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Abstract

  111. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90. View Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Abstract

  112. Back to the future: from genome to metabolome. Hum Mutat. 2012 May; 33(5):809-12. View Back to the future: from genome to metabolome. Abstract

  113. Skeletal health in adult patients with classic galactosemia. Osteoporos Int. 2013 Feb; 24(2):501-9. View Skeletal health in adult patients with classic galactosemia. Abstract

  114. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1037-49. View Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. Abstract

  115. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012 May; 106(1):7-11. View Galactosemia: when is it a newborn screening emergency? Abstract

  116. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. View Exploring concordance and discordance for return of incidental findings from clinical sequencing. Abstract

  117. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012 Feb 10; 90(2):363-8. View DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Abstract

  118. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View The adult galactosemic phenotype. Abstract

  119. A 9-month-old boy with seizures and discrepant urine tryptophan concentrations. Clin Chem. 2011 Apr; 57(4):545-8. View A 9-month-old boy with seizures and discrepant urine tryptophan concentrations. Abstract

  120. Psychosocial developmental milestones in men with classic galactosemia. J Inherit Metab Dis. 2011 Apr; 34(2):415-9. View Psychosocial developmental milestones in men with classic galactosemia. Abstract

  121. Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Apr 15; 879(13-14):998-1002. View Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue. Abstract

  122. Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? J Inherit Metab Dis. 2011 Apr; 34(2):345-55. View Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? Abstract

  123. Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. J Inherit Metab Dis. 2011 Apr; 34(2):249-55. View Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. Abstract

  124. Commentary. Clin Chem. 2010 Nov; 56(11):1669. View Commentary. Abstract

  125. Priority water research questions as determined by UK practitioners and policy makers. Sci Total Environ. 2010 Dec 15; 409(2):256-66. View Priority water research questions as determined by UK practitioners and policy makers. Abstract

  126. Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies. Mol Genet Metab. 2011 Jan; 102(1):33-40. View Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies. Abstract

  127. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. View Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Abstract

  128. Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. Clin Chem. 2010 May; 56(5):772-80. View Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. Abstract

  129. Knockout mice in understanding the mechanism of action of lithium. Biochem Soc Trans. 2009 Oct; 37(Pt 5):1121-5. View Knockout mice in understanding the mechanism of action of lithium. Abstract

  130. Brain phosphoinositide extraction, fractionation, and analysis by MALDI-TOF MS. Methods Mol Biol. 2009; 579:189-200. View Brain phosphoinositide extraction, fractionation, and analysis by MALDI-TOF MS. Abstract

  131. The unexplored potential of the pentose phosphate pathway in health and disease. J Inherit Metab Dis. 2008 Dec; 31(6):661. View The unexplored potential of the pentose phosphate pathway in health and disease. Abstract

  132. Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):81-95. View Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain. Abstract

  133. Homozygote inositol transporter knockout mice show a lithium-like phenotype. Bipolar Disord. 2008 Jun; 10(4):453-9. View Homozygote inositol transporter knockout mice show a lithium-like phenotype. Abstract

  134. Galactosemia and amenorrhea in the adolescent. Ann N Y Acad Sci. 2008; 1135:112-7. View Galactosemia and amenorrhea in the adolescent. Abstract

  135. Metabolic profiling. Nestle Nutr Workshop Ser Pediatr Program. 2008; 62:55-75; discussion 75-80. View Metabolic profiling. Abstract

  136. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab. 2008 Feb; 93(2):179-89. View Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Abstract

  137. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med. 2007 May 31; 356(22):2282-92. View Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Abstract

  138. REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population. Mol Genet Metab. 2007 Jan 17. View REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population. Abstract

  139. Phosphatidylcholine removal from brain lipid extracts expands lipid detection and enhances phosphoinositide quantification by matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. Anal Biochem. 2007 Mar 15; 362(2):155-67. View Phosphatidylcholine removal from brain lipid extracts expands lipid detection and enhances phosphoinositide quantification by matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. Abstract

  140. Behavioural phenotyping of sodium-myo-inositol cotransporter heterozygous knockout mice with reduced brain inositol. Genes Brain Behav. 2007 Apr; 6(3):253-9. View Behavioural phenotyping of sodium-myo-inositol cotransporter heterozygous knockout mice with reduced brain inositol. Abstract

  141. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. Mol Genet Metab. 2006 Aug; 88(4):322-6. View Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. Abstract

  142. SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior. Mol Genet Metab. 2006 Aug; 88(4):384-8. View SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior. Abstract

  143. Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. Am J Transplant. 2006 Jan; 6(1):150-60. View Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. Abstract

  144. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006 Jan; 78(1):89-102. View Epimerase-deficiency galactosemia is not a binary condition. Abstract

  145. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Mol Genet Metab. 2005 Dec; 86(4):473-7. View Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Abstract

  146. Extended [13C]galactose oxidation studies in patients with galactosemia. Mol Genet Metab. 2004 Jun; 82(2):130-6. View Extended [13C]galactose oxidation studies in patients with galactosemia. Abstract

  147. Phosphoinositide deficiency due to inositol depletion is not a mechanism of lithium action in brain. Mol Genet Metab. 2004 May; 82(1):87-92. View Phosphoinositide deficiency due to inositol depletion is not a mechanism of lithium action in brain. Abstract

  148. Malignant pleural and peritoneal mesotheliomas in former miners and millers of crocidolite at Wittenoom, Western Australia. Occup Environ Med. 2004 Apr; 61(4):e14. View Malignant pleural and peritoneal mesotheliomas in former miners and millers of crocidolite at Wittenoom, Western Australia. Abstract

  149. Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. J Inherit Metab Dis. 2004; 27(6):735-9. View Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. Abstract

  150. Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. J Inherit Metab Dis. 2004; 27(5):693-9. View Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. Abstract

  151. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab. 2004 Jan; 81(1):22-30. View The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Abstract

  152. Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics. 2003 Nov; 112(5):1005-15. View Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Abstract

  153. In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol. 2003 Aug; 24(7):1471-4. View In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. Abstract

  154. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7. View Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Abstract

  155. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology. 2003 Jun; 45(6):393-9. View MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Abstract

  156. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003 May; 45(5):315-9. View Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Abstract

  157. Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea. J Biol Chem. 2003 May 16; 278(20):18297-302. View Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea. Abstract

  158. Biliary atresia associated with a fatty acid oxidation defect. J Pediatr Gastroenterol Nutr. 2002 Nov; 35(5):624-8. View Biliary atresia associated with a fatty acid oxidation defect. Abstract

  159. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002 Jan; 110(1):21-9. View The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Abstract

  160. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis. 2001 Oct; 24(5):587-95. View Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. Abstract

  161. Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Ann Neurol. 2001 Aug; 50(2):266-9. View Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Abstract

  162. Reversible subacute combined degeneration of the spinal cord in a 14-year-old due to a strict vegan diet. Clin Pediatr (Phila). 2001 Jul; 40(7):413-5. View Reversible subacute combined degeneration of the spinal cord in a 14-year-old due to a strict vegan diet. Abstract

  163. Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet. Mol Genet Metab. 2001 Apr; 72(4):306-15. View Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet. Abstract

  164. Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. Mol Genet Metab. 2001 Apr; 72(4):316-21. View Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. Abstract

  165. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. J Pediatr. 2001 Feb; 138(2):260-2. View In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. Abstract

  166. Ornithine transcarbamylase deficiency and pancreatitis. J Pediatr. 2001 Jan; 138(1):123-4. View Ornithine transcarbamylase deficiency and pancreatitis. Abstract

  167. Long-term management of patients with urea cycle disorders. J Pediatr. 2001 Jan; 138(1 Suppl):S56-60; discussion S60-1. View Long-term management of patients with urea cycle disorders. Abstract

  168. Risk factors for premature ovarian failure in females with galactosemia. J Pediatr. 2000 Dec; 137(6):833-41. View Risk factors for premature ovarian failure in females with galactosemia. Abstract

  169. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. Pediatr Res. 2000 Sep; 48(3):323-8. View Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. Abstract

  170. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics. 2000 Sep 01; 68(2):144-51. View Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Abstract

  171. Apparent galactose appearance rate in human galactosemia based on plasma [(13)C]galactose isotopic enrichment. Mol Genet Metab. 2000 Aug; 70(4):261-71. View Apparent galactose appearance rate in human galactosemia based on plasma [(13)C]galactose isotopic enrichment. Abstract

  172. Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res. 2000 Aug; 48(2):211-7. View Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Abstract

  173. Mechanisms preventing allergen-induced airways hyperreactivity: role of tolerance and immune deviation. J Allergy Clin Immunol. 2000 Aug; 106(2):239-46. View Mechanisms preventing allergen-induced airways hyperreactivity: role of tolerance and immune deviation. Abstract

  174. Fatal hyperammonemia after orthotopic lung transplantation. Ann Intern Med. 2000 Feb 15; 132(4):283-7. View Fatal hyperammonemia after orthotopic lung transplantation. Abstract

  175. The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. J Inherit Metab Dis. 2000 Feb; 23(1):85-6. View The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. Abstract

  176. Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene. Cytogenet Cell Genet. 2000; 88(1-2):153-8. View Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene. Abstract

  177. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Metabolism. 1999 Oct; 48(10):1294-302. View Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Abstract

  178. In vivo brain myo-inositol levels in children with Down syndrome. J Pediatr. 1999 Jul; 135(1):94-7. View In vivo brain myo-inositol levels in children with Down syndrome. Abstract

  179. A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. J Neurol Sci. 1999 Apr 01; 164(2):153-7. View A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. Abstract

  180. Successful use of alternate waste nitrogen agents and hemodialysis in a patient with hyperammonemic coma after heart-lung transplantation. Arch Neurol. 1999 Apr; 56(4):481-4. View Successful use of alternate waste nitrogen agents and hemodialysis in a patient with hyperammonemic coma after heart-lung transplantation. Abstract

  181. Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia. Biochim Biophys Acta. 1999 Mar 25; 1437(3):287-300. View Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia. Abstract

  182. Allergen-specific Th1 cells fail to counterbalance Th2 cell-induced airway hyperreactivity but cause severe airway inflammation. J Clin Invest. 1999 Jan; 103(2):175-83. View Allergen-specific Th1 cells fail to counterbalance Th2 cell-induced airway hyperreactivity but cause severe airway inflammation. Abstract

  183. Meta-analysis on the association between environmental tobacco smoke (ETS) exposure and the prevalence of lower respiratory tract infection in early childhood. Pediatr Pulmonol. 1999 Jan; 27(1):5-13. View Meta-analysis on the association between environmental tobacco smoke (ETS) exposure and the prevalence of lower respiratory tract infection in early childhood. Abstract

  184. Elevation of erythrocyte redox potential linked to galactonate biosynthesis: elimination by Tolrestat. Metabolism. 1998 Nov; 47(11):1423-8. View Elevation of erythrocyte redox potential linked to galactonate biosynthesis: elimination by Tolrestat. Abstract

  185. Transcription of the sodium/myo-inositol cotransporter gene is regulated by multiple tonicity-responsive enhancers spread over 50 kilobase pairs in the 5'-flanking region. J Biol Chem. 1998 Aug 07; 273(32):20615-21. View Transcription of the sodium/myo-inositol cotransporter gene is regulated by multiple tonicity-responsive enhancers spread over 50 kilobase pairs in the 5'-flanking region. Abstract

  186. Sonographic screening for hepatocellular carcinoma in patients with chronic hepatitis or cirrhosis: an evaluation. AJR Am J Roentgenol. 1998 Aug; 171(2):433-5. View Sonographic screening for hepatocellular carcinoma in patients with chronic hepatitis or cirrhosis: an evaluation. Abstract

  187. The use of cardiac biopsy to demonstrate reduced cardiotoxicity in AIDS Kaposi's sarcoma patients treated with pegylated liposomal doxorubicin. Ann Oncol. 1998 Jul; 9(7):711-6. View The use of cardiac biopsy to demonstrate reduced cardiotoxicity in AIDS Kaposi's sarcoma patients treated with pegylated liposomal doxorubicin. Abstract

  188. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis. Neuroradiology. 1998 May; 40(5):315-23. View 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis. Abstract

  189. Retinopathy in older persons without diabetes and its relationship to hypertension. Arch Ophthalmol. 1998 Jan; 116(1):83-9. View Retinopathy in older persons without diabetes and its relationship to hypertension. Abstract

  190. The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Genomics. 1997 Dec 15; 46(3):459-65. View The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Abstract

  191. Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. Pediatr Res. 1997 Dec; 42(6):855-61. View Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. Abstract

  192. A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Pediatr Res. 1997 Oct; 42(4):448-54. View A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Abstract

  193. Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation. Ann Intern Med. 1997 Sep 15; 127(6):446-9. View Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation. Abstract

  194. Quantitative assessment of whole body galactose metabolism in galactosemic patients. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S43-9. View Quantitative assessment of whole body galactose metabolism in galactosemic patients. Abstract

  195. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr. 1997 Apr; 130(4):661-4. View A syndrome of congenital hyperinsulinism and hyperammonemia. Abstract

  196. Fatal hyperammonemia following orthotopic lung transplantation. Gastroenterology. 1997 Jan; 112(1):236-40. View Fatal hyperammonemia following orthotopic lung transplantation. Abstract

  197. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Hum Mol Genet. 1996 Dec; 5(12):1977-87. View Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Abstract

  198. GI complications after orthotopic lung transplantation. Am J Gastroenterol. 1996 Nov; 91(11):2382-90. View GI complications after orthotopic lung transplantation. Abstract

  199. Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation. Am J Clin Nutr. 1996 May; 63(5):704-8. View Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation. Abstract

  200. Multiple comparison of primary structure of the osmoregulatory Na+/myo-inositol cotransporter from bovine, human, and canine species. Mamm Genome. 1996 Mar; 7(3):252. View Multiple comparison of primary structure of the osmoregulatory Na+/myo-inositol cotransporter from bovine, human, and canine species. Abstract

  201. The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene. Cytogenet Cell Genet. 1996; 73(1-2):77-8. View The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene. Abstract

  202. In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. Biochem Mol Med. 1995 Dec; 56(2):158-65. View In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. Abstract

  203. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet. 1995 Oct 21; 346(8982):1073-4. View Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Abstract

  204. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord. 1995 Sep; 5(5):391-8. View A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Abstract

  205. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet. 1995 Jul; 57(1):34-9. View A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Abstract

  206. Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. Pediatr Nephrol. 1995 Jun; 9(3):287-91. View Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. Abstract

  207. Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars. Biochem Mol Med. 1995 Jun; 55(1):8-14. View Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars. Abstract

  208. Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders. Metabolism. 1995 May; 44(5):597-604. View Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders. Abstract

  209. The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Genomics. 1995 Jan 20; 25(2):507-13. View The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Abstract

  210. The role of polyols in the pathophysiology of hypergalactosemia. Eur J Pediatr. 1995; 154(7 Suppl 2):S53-64. View The role of polyols in the pathophysiology of hypergalactosemia. Abstract

  211. Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995; 18(3):299-305. View Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. Abstract

  212. Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. J Inherit Metab Dis. 1995; 18(6):701-4. View Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. Abstract

  213. Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases. Pediatr Res. 1994 Nov; 36(5):613-8. View Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases. Abstract

  214. The effect of glucose and galactose toxicity on myo-inositol transport and metabolism in human skin fibroblasts in culture. Pediatr Res. 1994 Feb; 35(2):141-7. View The effect of glucose and galactose toxicity on myo-inositol transport and metabolism in human skin fibroblasts in culture. Abstract

  215. myo-inositol transport and metabolism in fetal-bovine aortic endothelial cells. Biochem J. 1993 Nov 01; 295 ( Pt 3):863-9. View myo-inositol transport and metabolism in fetal-bovine aortic endothelial cells. Abstract

  216. Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. Am J Dis Child. 1993 Sep; 147(9):954-6. View Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. Abstract

  217. Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res. 1993 Jul; 34(1):89-97. View Renal handling of carnitine in secondary carnitine deficiency disorders. Abstract

  218. Kinetic evidence for compartmentalization of myo-inositol in hepatocytes. Metabolism. 1993 Mar; 42(3):395-401. View Kinetic evidence for compartmentalization of myo-inositol in hepatocytes. Abstract

  219. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis. 1993; 16(1):91-100. View The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. Abstract

  220. Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1993; 16(5):851-6. View Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. Abstract

  221. Concentration of white blood cell UDPgalactose and UDPglucose determined by high performance liquid chromatography. Enzyme Protein. 1993; 47(3):105-15. View Concentration of white blood cell UDPgalactose and UDPglucose determined by high performance liquid chromatography. Abstract

  222. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med. 1992 Jul 02; 327(1):19-23. View Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. Abstract

  223. Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Metabolism. 1992 Jul; 41(7):783-7. View Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Abstract

  224. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res. 1992 May; 31(5):508-11. View Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Abstract

  225. 31P NMR analysis of red blood cell UDPGlucose and UDPGalactose: comparison with HPLC and enzymatic methods. Anal Biochem. 1992 Apr; 202(1):105-10. View 31P NMR analysis of red blood cell UDPGlucose and UDPGalactose: comparison with HPLC and enzymatic methods. Abstract

  226. Infant obesity, weight reduction with normal increase in linear growth and fat-free body mass. Pediatrics. 1992 Jan; 89(1):143-5. View Infant obesity, weight reduction with normal increase in linear growth and fat-free body mass. Abstract

  227. Maturational regulation of inositol 1,4,5-trisphosphate metabolism in rabbit airway smooth muscle. J Clin Invest. 1991 Dec; 88(6):2032-8. View Maturational regulation of inositol 1,4,5-trisphosphate metabolism in rabbit airway smooth muscle. Abstract

  228. Intellectual outcome in children with maple syrup urine disease. J Pediatr. 1991 Jul; 119(1 Pt 1):46-50. View Intellectual outcome in children with maple syrup urine disease. Abstract

  229. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci. 1991 Jul; 104(1):97-111. View Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. Abstract

  230. Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders. J Pediatr. 1991 Jun; 118(6):914-7. View Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders. Abstract

  231. The concentration of red blood cell UDPglucose and UDPgalactose determined by high-performance liquid chromatography. Anal Biochem. 1991 May 01; 194(2):388-93. View The concentration of red blood cell UDPglucose and UDPgalactose determined by high-performance liquid chromatography. Abstract

  232. Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. N Engl J Med. 1991 Jan 17; 324(3):175-9. View Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. Abstract

  233. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. J Inherit Metab Dis. 1989; 12(3):312-6. View Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. Abstract

  234. BCG vaccination in leprosy: final results of the trial in Karimui, Papua New Guinea, 1963-79. Bull World Health Organ. 1989; 67(4):389-99. View BCG vaccination in leprosy: final results of the trial in Karimui, Papua New Guinea, 1963-79. Abstract

  235. The prevalence of nosocomial and community-acquired infections in Australian hospitals. Med J Aust. 1988 Dec 5-19; 149(11-12):582-90. View The prevalence of nosocomial and community-acquired infections in Australian hospitals. Abstract

  236. Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr. 1988 Dec; 113(6):1022-7. View Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. Abstract

  237. Predictors of surgical wound infection in Australia: a national study. Med J Aust. 1988 Dec 5-19; 149(11-12):591-5. View Predictors of surgical wound infection in Australia: a national study. Abstract

  238. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med. 1988 Oct 13; 319(15):999-1003. View Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. Abstract

  239. Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy. J Pediatr. 1988 Jul; 113(1 Pt 1):58-64. View Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy. Abstract

  240. Experience with acute subdural haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):549-56. View Experience with acute subdural haematomas in New South Wales. Abstract

  241. Experience with extradural haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):535-41. View Experience with extradural haematomas in New South Wales. Abstract

  242. Experience with multiple intracranial haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):543-8. View Experience with multiple intracranial haematomas in New South Wales. Abstract

  243. Experience with spinal injuries in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):567-76. View Experience with spinal injuries in New South Wales. Abstract

  244. Epidemiology and clinical outcomes of neurotrauma in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):557-66. View Epidemiology and clinical outcomes of neurotrauma in New South Wales. Abstract

  245. Experience with chronic subdural haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):577-83. View Experience with chronic subdural haematomas in New South Wales. Abstract

  246. Phosphatidylinositol:myo-inositol exchange activity in intact nerve endings: substrate and cofactor dependence, nucleotide specificity, and effect on synaptosomal handling of myo-inositol. J Neurochem. 1986 Apr; 46(4):1073-80. View Phosphatidylinositol:myo-inositol exchange activity in intact nerve endings: substrate and cofactor dependence, nucleotide specificity, and effect on synaptosomal handling of myo-inositol. Abstract

  247. Effect of elevated potassium on phospholipid and inositol metabolism of isolated nerve endings. Neurochem Int. 1986; 9(2):295-304. View Effect of elevated potassium on phospholipid and inositol metabolism of isolated nerve endings. Abstract

  248. Mortality of Chinese in New South Wales, 1969-1978. Int J Epidemiol. 1984 Jun; 13(2):188-92. View Mortality of Chinese in New South Wales, 1969-1978. Abstract

  249. High-performance liquid chromatography of phospholipids: quantitation by phosphate analysis. Anal Biochem. 1983 Nov; 135(1):239-43. View High-performance liquid chromatography of phospholipids: quantitation by phosphate analysis. Abstract

  250. CMP-dependent phosphatidylinositol:myo-inositol exchange activity in isolated nerve-endings. Biochem Biophys Res Commun. 1983 May 16; 112(3):817-21. View CMP-dependent phosphatidylinositol:myo-inositol exchange activity in isolated nerve-endings. Abstract

  251. The effect of phentolamine on synaptosomal phosphatidylinositol in experimental galactose toxicity. Neurochem Res. 1982 Jan; 7(1):49-54. View The effect of phentolamine on synaptosomal phosphatidylinositol in experimental galactose toxicity. Abstract

  252. High-performance liquid chromatography of phospholipids with UV detection: optimization of separations on silica. J Chromatogr. 1981 Oct 09; 225(2):319-28. View High-performance liquid chromatography of phospholipids with UV detection: optimization of separations on silica. Abstract

  253. Experimental galactose toxicity: effects on synaptosomal phosphatidylinositol metabolism. J Neurochem. 1981 Oct; 37(4):888-91. View Experimental galactose toxicity: effects on synaptosomal phosphatidylinositol metabolism. Abstract

  254. Acidosis associated with dietotherapy of maple syrup urine disease. J Pediatr. 1980 Jan; 96(1):62-4. View Acidosis associated with dietotherapy of maple syrup urine disease. Abstract

  255. Dose-response relationships for asbestos-related disease; implications for hygiene standards. Part I. Morbidity. Ann N Y Acad Sci. 1979; 330:185-94. View Dose-response relationships for asbestos-related disease; implications for hygiene standards. Part I. Morbidity. Abstract

  256. Patterns of mortality in asbestos factory workers in London. Ann N Y Acad Sci. 1979; 330:53-60. View Patterns of mortality in asbestos factory workers in London. Abstract

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