Information

Related Research Units

The Manton Center for Orphan Disease Research
Genetics and Genomics Research

Research Overview

Dr. Gerard T. Berry’s primary interest is in carbohydrate metabolism, and galactosemia. Dr. Berry’s basic science and clinical research efforts are focused on hereditary galactosemia, and inositol metabolism in the brain, particularly during fetal development. He has employed in vivo isotope kinetic studies using [13C]-labeled sugars and mass spectrometry to dissect whole body galactose metabolism and breath testing to establish genotype-phenotype relationships in patients with galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency. He is working with investigators in the USA and Europe to establish an international database of patients with galactosemia.

Laboratory Projects

  1. Genotype-Phenotype Correlations in Galactosemia:We are using state-of-the-art LC-MS/MS-based methods to establish relationships between residual GALT enzyme activities linked with the genotype and long-term complications such as CNS disease.

  2. Use of iPS cells and derived synthetic neurons to delineate the mechanisms of neuronal dysfunction and cell death in galactosemia:We are employing galactosemic neurons in culture exposed to varying degrees of galactose stress to identify proximal pathways that initiate cellular perturbations and damage using a multiple omics approach. CRISPR/Cas9 gene editing is used to correct the GALT gene mutations.

  3. Use of a fetal brain myo-inositol deficiency model to study its impact on brain development: As certain patients with galactosemia exhibit brain myo-inositol deficiency in the neonatal period, we are utilizing sodium myo-inositol / transporter (SLC5A3) knockout mice to study the impact of severe brain myoinositol deficiency, as well as loss of SMIT1 protein, on cell signaling and neuronal excitability.

Research Background

Gerard T. Berry is the Harvey Levy Chair in Metabolism at the Boston Children’s Hospital, and Professor of Pediatrics at the Harvard Medical School. He is the Director of the Harvard Medical School Biochemical Genetics Training Program. He received an MD degree from the Jefferson Medical College and completed his residency in pediatrics at the Thomas Jefferson University Hospital in 1978. He then began a combined fellowship in biochemical genetics and pediatric endocrinology at the Children's Hospital of Philadelphia, and joined the faculty of the University of Pennsylvania School of Medicine as an Assistant Professor of Pediatrics in 1981. Dr. Berry was promoted to Professor of Pediatrics in 1995. He was the recipient of the 2004 Emmanuel Shapiro SIMD Award. As a member of the SIMD Board of Directors, Dr. Berry is the SIMD Membership Chair. He is the co-chair of the UDN metabolomics working group.

Selected Publications

  1. Berry GT, Moate PJ, Reynolds RA, Yager CT, Ning C, Boston RC and Segal S. The Rate of De Novo Galactose Synthesis in Patients with Galactose -1-Phosphate Uridyltransferase (GALT) Deficiency. Mol. Genet. Metab. 81: 22-30, 2004. (2004 SIMD Emmanuel Shapiro Award)
  2. Berry GT, Wu S, Buccafusca R, Ren J, Gonzales LW, Ballard P, Golden J, Stevens MJ and Greer JJ. Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea. J. Biol. Chem. 92: 18297-18302, 2003.
  3. Abbott GW, Tai K, Neverisky D, Hansler A, Hu Z, Roepke TK, Lerner DJ, Chen Q, Liu L, Zupan B, Toth M, Haynes R, Huang X, Demirbas D, Buccafusca R, Gross SS, Kanda VA*, Berry GT*. KCNQ1, KCNE1, and NA+-Coupled Solute Transporters Form Reciprocally Regulating Complexes that Affect Neuronal Excitability. Science Signaling. 7, ra22, 2014.

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

Publications

  1. The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones. Genet Med. 2025 Jan; 27(1):101281. View Abstract
  2. Health and well-being of maturing adults with classic galactosemia. J Inherit Metab Dis. 2025 01; 48(1):e12786. View 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 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 Abstract
  5. Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. JCI Insight. 2024 Feb 22; 9(4). View Abstract
  6. Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Front Genet. 2024; 15:1355962. View Abstract
  7. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Mol Genet Metab. 2023 11; 140(3):107693. View 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 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 Abstract
  10. The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 2023 03 01; 29(2):246-258. View 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 Abstract
  12. Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet J Rare Dis. 2022 09 02; 17(1):331. View 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 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 Abstract
  15. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. View Abstract
  16. The development of end stage renal disease in two patients with PMM2-CDG. JIMD Rep. 2022 Mar; 63(2):131-136. View Abstract
  17. Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. JIMD Rep. 2021 Nov; 62(1):30-34. View Abstract
  18. Transient developmental delays in infants with Duarte-2 variant galactosemia. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):132-138. View 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 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 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 Abstract
  22. [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. JIMD Rep. 2021 May; 59(1):104-109. View 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 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 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 Abstract
  26. Galactokinase deficiency: lessons from the GalNet registry. Genet Med. 2021 01; 23(1):202-210. View Abstract
  27. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172. View 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 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 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 Abstract
  31. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. View 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 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 Abstract
  34. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol. 2020 03; 145(3):1008-1011. View 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 Abstract
  36. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128. View Abstract
  37. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019 04 27; 14(1):86. View Abstract
  38. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. View 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 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 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 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 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 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 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 Abstract
  46. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018 11; 84(5):766-780. View Abstract
  47. Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. Clin Chem. 2018 08; 64(8):1260-1262. View 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 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 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 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 Abstract
  52. Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View 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 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 Abstract
  55. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018 05; 124(1):82-86. View 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 Abstract
  57. Hereditary galactosemia. Metabolism. 2018 06; 83:188-196. View Abstract
  58. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View 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 Abstract
  60. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View Abstract
  61. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View 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 Abstract
  63. Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertil Steril. 2017 07; 108(1):168-174. View Abstract
  64. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View Abstract
  65. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View Abstract
  66. Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation. Mol Genet Metab Rep. 2017 Sep; 12:1. View 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 Abstract
  68. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View 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 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 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 Abstract
  72. The galactosemia network (GalNet). J Inherit Metab Dis. 2017 03; 40(2):169-170. View Abstract
  73. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View 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 Abstract
  75. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113. View Abstract
  76. Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. JIMD Rep. 2017; 32:25-32. View Abstract
  77. A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). View 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 Abstract
  79. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. View Abstract
  80. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111. View 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 Abstract
  82. Galactose metabolism and health. Curr Opin Clin Nutr Metab Care. 2015 Jul; 18(4):422-7. View 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 Abstract
  84. A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. JIMD Rep. 2015; 19:1-6. View Abstract
  85. Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. View Abstract
  86. The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014; 17:37-9. View Abstract
  87. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract
  88. Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol. 2014 Nov; 29(11):2139-46. View Abstract
  89. Mesothelioma risk after 40 years since first exposure to asbestos: a pooled analysis. Thorax. 2014 Sep; 69(9):843-50. View 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 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 Abstract
  92. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. View 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 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 Abstract
  95. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. View 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 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 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 Abstract
  99. Inositol-related gene knockouts mimic lithium's effect on mitochondrial function. Neuropsychopharmacology. 2014 Jan; 39(2):319-28. View 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 Abstract
  101. Fertility preservation in female classic galactosemia patients. Orphanet J Rare Dis. 2013 Jul 16; 8:107. View 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 Abstract
  103. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 07; 80(19):1762-70. View 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 Abstract
  105. Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizures. PLoS One. 2013; 8(3):e57148. View 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 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 Abstract
  108. Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. Clin Biochem. 2012 Dec; 45(18):1583-6. View Abstract
  109. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View Abstract
  110. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Mol Genet Metab. 2012 Aug; 106(4):442-54. View 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 Abstract
  112. Back to the future: from genome to metabolome. Hum Mutat. 2012 May; 33(5):809-12. View Abstract
  113. Skeletal health in adult patients with classic galactosemia. Osteoporos Int. 2013 Feb; 24(2):501-9. View 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 Abstract
  115. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012 May; 106(1):7-11. View Abstract
  116. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. View 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 Abstract
  118. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View Abstract
  119. A 9-month-old boy with seizures and discrepant urine tryptophan concentrations. Clin Chem. 2011 Apr; 57(4):545-8. View Abstract
  120. Psychosocial developmental milestones in men with classic galactosemia. J Inherit Metab Dis. 2011 Apr; 34(2):415-9. View 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 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 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 Abstract
  124. Commentary. Clin Chem. 2010 Nov; 56(11):1669. View 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 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 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 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 Abstract
  129. Knockout mice in understanding the mechanism of action of lithium. Biochem Soc Trans. 2009 Oct; 37(Pt 5):1121-5. View Abstract
  130. Brain phosphoinositide extraction, fractionation, and analysis by MALDI-TOF MS. Methods Mol Biol. 2009; 579:189-200. View Abstract
  131. The unexplored potential of the pentose phosphate pathway in health and disease. J Inherit Metab Dis. 2008 Dec; 31(6):661. View 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 Abstract
  133. Homozygote inositol transporter knockout mice show a lithium-like phenotype. Bipolar Disord. 2008 Jun; 10(4):453-9. View Abstract
  134. Galactosemia and amenorrhea in the adolescent. Ann N Y Acad Sci. 2008; 1135:112-7. View Abstract
  135. Metabolic profiling. Nestle Nutr Workshop Ser Pediatr Program. 2008; 62:55-75; discussion 75-80. View 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 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 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 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 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 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 Abstract
  142. SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior. Mol Genet Metab. 2006 Aug; 88(4):384-8. View Abstract
  143. Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. Am J Transplant. 2006 Jan; 6(1):150-60. View Abstract
  144. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006 Jan; 78(1):89-102. View Abstract
  145. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Mol Genet Metab. 2005 Dec; 86(4):473-7. View Abstract
  146. Extended [13C]galactose oxidation studies in patients with galactosemia. Mol Genet Metab. 2004 Jun; 82(2):130-6. View 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 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 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 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 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 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 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 Abstract
  154. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13; 60(9):1413-7. View 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 Abstract
  156. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology. 2003 May; 45(5):315-9. View 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 Abstract
  158. Biliary atresia associated with a fatty acid oxidation defect. J Pediatr Gastroenterol Nutr. 2002 Nov; 35(5):624-8. View 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 Abstract
  160. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis. 2001 Oct; 24(5):587-95. View Abstract
  161. Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Ann Neurol. 2001 Aug; 50(2):266-9. View 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 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 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 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 Abstract
  166. Ornithine transcarbamylase deficiency and pancreatitis. J Pediatr. 2001 Jan; 138(1):123-4. View Abstract
  167. Long-term management of patients with urea cycle disorders. J Pediatr. 2001 Jan; 138(1 Suppl):S56-60; discussion S60-1. View Abstract
  168. Risk factors for premature ovarian failure in females with galactosemia. J Pediatr. 2000 Dec; 137(6):833-41. View Abstract
  169. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. Pediatr Res. 2000 Sep; 48(3):323-8. View 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 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 Abstract
  172. Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res. 2000 Aug; 48(2):211-7. View 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 Abstract
  174. Fatal hyperammonemia after orthotopic lung transplantation. Ann Intern Med. 2000 Feb 15; 132(4):283-7. View 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 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 Abstract
  177. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Metabolism. 1999 Oct; 48(10):1294-302. View Abstract
  178. In vivo brain myo-inositol levels in children with Down syndrome. J Pediatr. 1999 Jul; 135(1):94-7. View 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 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 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 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 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 Abstract
  184. Elevation of erythrocyte redox potential linked to galactonate biosynthesis: elimination by Tolrestat. Metabolism. 1998 Nov; 47(11):1423-8. View 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 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 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 Abstract
  188. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis. Neuroradiology. 1998 May; 40(5):315-23. View Abstract
  189. Retinopathy in older persons without diabetes and its relationship to hypertension. Arch Ophthalmol. 1998 Jan; 116(1):83-9. View 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 Abstract
  191. Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. Pediatr Res. 1997 Dec; 42(6):855-61. View 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 Abstract
  193. Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation. Ann Intern Med. 1997 Sep 15; 127(6):446-9. View Abstract
  194. Quantitative assessment of whole body galactose metabolism in galactosemic patients. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S43-9. View Abstract
  195. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr. 1997 Apr; 130(4):661-4. View Abstract
  196. Fatal hyperammonemia following orthotopic lung transplantation. Gastroenterology. 1997 Jan; 112(1):236-40. View 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 Abstract
  198. GI complications after orthotopic lung transplantation. Am J Gastroenterol. 1996 Nov; 91(11):2382-90. View 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 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 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 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 Abstract
  203. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet. 1995 Oct 21; 346(8982):1073-4. View 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 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 Abstract
  206. Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. Pediatr Nephrol. 1995 Jun; 9(3):287-91. View 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 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 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 Abstract
  210. The role of polyols in the pathophysiology of hypergalactosemia. Eur J Pediatr. 1995; 154(7 Suppl 2):S53-64. View Abstract
  211. Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995; 18(3):299-305. View Abstract
  212. Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. J Inherit Metab Dis. 1995; 18(6):701-4. View 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 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 Abstract
  215. myo-inositol transport and metabolism in fetal-bovine aortic endothelial cells. Biochem J. 1993 Nov 01; 295 ( Pt 3):863-9. View 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 Abstract
  217. Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res. 1993 Jul; 34(1):89-97. View Abstract
  218. Kinetic evidence for compartmentalization of myo-inositol in hepatocytes. Metabolism. 1993 Mar; 42(3):395-401. View 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 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 Abstract
  221. Concentration of white blood cell UDPgalactose and UDPglucose determined by high performance liquid chromatography. Enzyme Protein. 1993; 47(3):105-15. View 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 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 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 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 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 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 Abstract
  228. Intellectual outcome in children with maple syrup urine disease. J Pediatr. 1991 Jul; 119(1 Pt 1):46-50. View Abstract
  229. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci. 1991 Jul; 104(1):97-111. View 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 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 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 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 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 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 Abstract
  236. Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr. 1988 Dec; 113(6):1022-7. View 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 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 Abstract
  239. Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy. J Pediatr. 1988 Jul; 113(1 Pt 1):58-64. View Abstract
  240. Experience with acute subdural haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):549-56. View Abstract
  241. Experience with extradural haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):535-41. View Abstract
  242. Experience with multiple intracranial haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):543-8. View Abstract
  243. Experience with spinal injuries in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):567-76. View Abstract
  244. Epidemiology and clinical outcomes of neurotrauma in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):557-66. View Abstract
  245. Experience with chronic subdural haematomas in New South Wales. Aust N Z J Surg. 1986 Jul; 56(7):577-83. View 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 Abstract
  247. Effect of elevated potassium on phospholipid and inositol metabolism of isolated nerve endings. Neurochem Int. 1986; 9(2):295-304. View Abstract
  248. Mortality of Chinese in New South Wales, 1969-1978. Int J Epidemiol. 1984 Jun; 13(2):188-92. View Abstract
  249. High-performance liquid chromatography of phospholipids: quantitation by phosphate analysis. Anal Biochem. 1983 Nov; 135(1):239-43. View 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 Abstract
  251. The effect of phentolamine on synaptosomal phosphatidylinositol in experimental galactose toxicity. Neurochem Res. 1982 Jan; 7(1):49-54. View 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 Abstract
  253. Experimental galactose toxicity: effects on synaptosomal phosphatidylinositol metabolism. J Neurochem. 1981 Oct; 37(4):888-91. View Abstract
  254. Acidosis associated with dietotherapy of maple syrup urine disease. J Pediatr. 1980 Jan; 96(1):62-4. View 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 Abstract
  256. Patterns of mortality in asbestos factory workers in London. Ann N Y Acad Sci. 1979; 330:53-60. View Abstract

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