Gerard Berry, MD
Attending Physician, Division of Genetics and Genomics
Professor of Pediatrics, Harvard Medical School
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Gerard Berry, MD
Attending Physician, Division of Genetics and Genomics
Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
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
Certifications
American Board of Pediatrics (General)
American Board of Pediatrics (Endocrinology)
American Board of Medical Genetics and Genomics (Clinical Genetics)
Publications
Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null. View Abstract
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. View Abstract
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. View Abstract
Phenylketonuria in adults: we know plenty, but there is much more to learn. View Abstract
The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones. View Abstract
Health and well-being of maturing adults with classic galactosemia. View Abstract
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. View Abstract
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. View Abstract
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. View Abstract
Brain function in classic galactosemia, a galactosemia network (GalNet) members review. View Abstract
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. View Abstract
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. View Abstract
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study. View Abstract
The hypergonadotropic hypogonadism conundrum of classic galactosemia. View Abstract
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. View Abstract
Galactose epimerase deficiency: lessons from the GalNet registry. View Abstract
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know. View Abstract
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. View Abstract
Genetic Determinants of Sudden Unexpected Death in Pediatrics. View Abstract
The development of end stage renal disease in two patients with PMM2-CDG. View Abstract
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch-Nyhan syndrome. View Abstract
Transient developmental delays in infants with Duarte-2 variant galactosemia. View Abstract
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. View Abstract
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia. View Abstract
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? View Abstract
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. View Abstract
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. View Abstract
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. View Abstract
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. View Abstract
Galactokinase deficiency: lessons from the GalNet registry. View Abstract
A retrospective study of adult patients with noncirrhotic hyperammonemia. View Abstract
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. View Abstract
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. View Abstract
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. View Abstract
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. View Abstract
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. View Abstract
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. View Abstract
Defining a new immune deficiency syndrome: MAN2B2-CDG. View Abstract
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. View Abstract
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. View Abstract
The natural history of classic galactosemia: lessons from the GalNet registry. View Abstract
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. View Abstract
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. View Abstract
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). View Abstract
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. View Abstract
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. View Abstract
Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability. View Abstract
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. View Abstract
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. View Abstract
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. View Abstract
Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. View Abstract
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. View Abstract
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). View Abstract
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. View Abstract
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. View Abstract
Acute Illness Protocol for Urea Cycle Disorders. View Abstract
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. View Abstract
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. View Abstract
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. View Abstract
Focal Hepatic Glycogenosis in a Patient With Uncontrolled Diabetes Mellitus Type 1. View Abstract
Hereditary galactosemia. View Abstract
Acute Illness Protocol for Maple Syrup Urine Disease. View Abstract
Impaired fertility and motor function in a zebrafish model for classic galactosemia. View Abstract
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. View Abstract
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. View Abstract
High serum serotonin in sudden infant death syndrome. View Abstract
Fertility in adult women with classic galactosemia and primary ovarian insufficiency. View Abstract
Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. View Abstract
Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. View Abstract
Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation. View Abstract
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment. View Abstract
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. View Abstract
IP3 accumulation and/or inositol depletion: two downstream lithium's effects that may mediate its behavioral and cellular changes. View Abstract
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. View Abstract
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. View Abstract
The galactosemia network (GalNet). View Abstract
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. View Abstract
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. View Abstract
Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. View Abstract
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings. View Abstract
A 10-Month-Old With Intermittent Hypotonia and Paralysis. View Abstract
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. View Abstract
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. View Abstract
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. View Abstract
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. View Abstract
Galactose metabolism and health. View Abstract
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. View Abstract
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. View Abstract
Menkes disease in affected females: the clinical disease spectrum. View Abstract
The complexity of newborn screening follow-up in phenylketonuria. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. View Abstract
Mesothelioma risk after 40 years since first exposure to asbestos: a pooled analysis. View Abstract
A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. View Abstract
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. View Abstract
Phenylketonuria Scientific Review Conference: state of the science and future research needs. View Abstract
KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability. View Abstract
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers. View Abstract
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. View Abstract
Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. View Abstract
Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study. View Abstract
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. View Abstract
Inositol-related gene knockouts mimic lithium's effect on mitochondrial function. View Abstract
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. View Abstract
Fertility preservation in female classic galactosemia patients. View Abstract
Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report. View Abstract
Targeted exome sequencing of suspected mitochondrial disorders. View Abstract
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. View Abstract
Bumetanide enhances phenobarbital efficacy in a rat model of hypoxic neonatal seizures. View Abstract
Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. View Abstract
The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. View Abstract
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency. View Abstract
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. View Abstract
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. View Abstract
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. View Abstract
Back to the future: from genome to metabolome. View Abstract
Skeletal health in adult patients with classic galactosemia. View Abstract
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. View Abstract
Galactosemia: when is it a newborn screening emergency? View Abstract
Exploring concordance and discordance for return of incidental findings from clinical sequencing. View Abstract
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. View Abstract
The adult galactosemic phenotype. View Abstract
A 9-month-old boy with seizures and discrepant urine tryptophan concentrations. View Abstract
Psychosocial developmental milestones in men with classic galactosemia. View Abstract
Sensitive isotope dilution liquid chromatography/tandem mass spectrometry method for quantitative analysis of bumetanide in serum and brain tissue. View Abstract
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? View Abstract
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. View Abstract
Commentary. View Abstract
Priority water research questions as determined by UK practitioners and policy makers. View Abstract
Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies. View Abstract
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. View Abstract
Knockout mice in understanding the mechanism of action of lithium. View Abstract
Brain phosphoinositide extraction, fractionation, and analysis by MALDI-TOF MS. View Abstract
The unexplored potential of the pentose phosphate pathway in health and disease. View Abstract
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. View Abstract
Homozygote inositol transporter knockout mice show a lithium-like phenotype. View Abstract
Galactosemia and amenorrhea in the adolescent. View Abstract
Metabolic profiling. View Abstract
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. View Abstract
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. View Abstract
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population. View Abstract
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. View Abstract
Behavioural phenotyping of sodium-myo-inositol cotransporter heterozygous knockout mice with reduced brain inositol. View Abstract
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency. View Abstract
SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior. View Abstract
Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. View Abstract
Epimerase-deficiency galactosemia is not a binary condition. View Abstract
Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. View Abstract
Extended [13C]galactose oxidation studies in patients with galactosemia. View Abstract
Phosphoinositide deficiency due to inositol depletion is not a mechanism of lithium action in brain. View Abstract
Malignant pleural and peritoneal mesotheliomas in former miners and millers of crocidolite at Wittenoom, Western Australia. View Abstract
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. View Abstract
Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: case presentation and review of the literature. View Abstract
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. View Abstract
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. View Abstract
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. View Abstract
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. View Abstract
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. View Abstract
Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. View Abstract
Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea. View Abstract
Biliary atresia associated with a fatty acid oxidation defect. View Abstract
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. View Abstract
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. View Abstract
Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. View Abstract
Reversible subacute combined degeneration of the spinal cord in a 14-year-old due to a strict vegan diet. View Abstract
Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet. View Abstract
Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. View Abstract
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. View Abstract
Ornithine transcarbamylase deficiency and pancreatitis. View Abstract
Long-term management of patients with urea cycle disorders. View Abstract
Risk factors for premature ovarian failure in females with galactosemia. View Abstract
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. View Abstract
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. View Abstract
Apparent galactose appearance rate in human galactosemia based on plasma [(13)C]galactose isotopic enrichment. View Abstract
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. View Abstract
Mechanisms preventing allergen-induced airways hyperreactivity: role of tolerance and immune deviation. View Abstract
Fatal hyperammonemia after orthotopic lung transplantation. View Abstract
The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. View Abstract
Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene. View Abstract
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. View Abstract
In vivo brain myo-inositol levels in children with Down syndrome. View Abstract
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. View Abstract
Successful use of alternate waste nitrogen agents and hemodialysis in a patient with hyperammonemic coma after heart-lung transplantation. View Abstract
Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia. View Abstract
Allergen-specific Th1 cells fail to counterbalance Th2 cell-induced airway hyperreactivity but cause severe airway inflammation. View Abstract
Meta-analysis on the association between environmental tobacco smoke (ETS) exposure and the prevalence of lower respiratory tract infection in early childhood. View Abstract
Elevation of erythrocyte redox potential linked to galactonate biosynthesis: elimination by Tolrestat. View Abstract
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. View Abstract
Sonographic screening for hepatocellular carcinoma in patients with chronic hepatitis or cirrhosis: an evaluation. View Abstract
The use of cardiac biopsy to demonstrate reduced cardiotoxicity in AIDS Kaposi's sarcoma patients treated with pegylated liposomal doxorubicin. View Abstract
1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis. View Abstract
Retinopathy in older persons without diabetes and its relationship to hypertension. View Abstract
The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. View Abstract
Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. View Abstract
A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. View Abstract
Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation. View Abstract
Quantitative assessment of whole body galactose metabolism in galactosemic patients. View Abstract
A syndrome of congenital hyperinsulinism and hyperammonemia. View Abstract
Fatal hyperammonemia following orthotopic lung transplantation. View Abstract
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. View Abstract
GI complications after orthotopic lung transplantation. View Abstract
Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation. View Abstract
Multiple comparison of primary structure of the osmoregulatory Na+/myo-inositol cotransporter from bovine, human, and canine species. View Abstract
The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene. View Abstract
In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. View Abstract
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. View Abstract
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. View Abstract
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. View Abstract
Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. View Abstract
Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars. View Abstract
Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders. View Abstract
The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. View Abstract
The role of polyols in the pathophysiology of hypergalactosemia. View Abstract
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. View Abstract
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. View Abstract
Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases. View Abstract
The effect of glucose and galactose toxicity on myo-inositol transport and metabolism in human skin fibroblasts in culture. View Abstract
myo-inositol transport and metabolism in fetal-bovine aortic endothelial cells. View Abstract
Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. View Abstract
Renal handling of carnitine in secondary carnitine deficiency disorders. View Abstract
Kinetic evidence for compartmentalization of myo-inositol in hepatocytes. View Abstract
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. View Abstract
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. View Abstract
Concentration of white blood cell UDPgalactose and UDPglucose determined by high performance liquid chromatography. View Abstract
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. View Abstract
Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. View Abstract
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. View Abstract
31P NMR analysis of red blood cell UDPGlucose and UDPGalactose: comparison with HPLC and enzymatic methods. View Abstract
Infant obesity, weight reduction with normal increase in linear growth and fat-free body mass. View Abstract
Maturational regulation of inositol 1,4,5-trisphosphate metabolism in rabbit airway smooth muscle. View Abstract
Intellectual outcome in children with maple syrup urine disease. View Abstract
Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. View Abstract
Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders. View Abstract
The concentration of red blood cell UDPglucose and UDPgalactose determined by high-performance liquid chromatography. View Abstract
Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. View Abstract
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. View Abstract
BCG vaccination in leprosy: final results of the trial in Karimui, Papua New Guinea, 1963-79. View Abstract
The prevalence of nosocomial and community-acquired infections in Australian hospitals. View Abstract
Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. View Abstract
Predictors of surgical wound infection in Australia: a national study. View Abstract
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. View Abstract
Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy. View Abstract
Experience with acute subdural haematomas in New South Wales. View Abstract
Experience with extradural haematomas in New South Wales. View Abstract
Experience with multiple intracranial haematomas in New South Wales. View Abstract
Experience with spinal injuries in New South Wales. View Abstract
Epidemiology and clinical outcomes of neurotrauma in New South Wales. View Abstract
Experience with chronic subdural haematomas in New South Wales. View Abstract
Phosphatidylinositol:myo-inositol exchange activity in intact nerve endings: substrate and cofactor dependence, nucleotide specificity, and effect on synaptosomal handling of myo-inositol. View Abstract
Effect of elevated potassium on phospholipid and inositol metabolism of isolated nerve endings. View Abstract
Mortality of Chinese in New South Wales, 1969-1978. View Abstract
High-performance liquid chromatography of phospholipids: quantitation by phosphate analysis. View Abstract
CMP-dependent phosphatidylinositol:myo-inositol exchange activity in isolated nerve-endings. View Abstract
The effect of phentolamine on synaptosomal phosphatidylinositol in experimental galactose toxicity. View Abstract
High-performance liquid chromatography of phospholipids with UV detection: optimization of separations on silica. View Abstract
Experimental galactose toxicity: effects on synaptosomal phosphatidylinositol metabolism. View Abstract
Acidosis associated with dietotherapy of maple syrup urine disease. View Abstract
Dose-response relationships for asbestos-related disease; implications for hygiene standards. Part I. Morbidity. View Abstract
Patterns of mortality in asbestos factory workers in London. View Abstract