James Vivian Leonard
#159,634
Most Influential Person Now
James Vivian Leonard's AcademicInfluence.com Rankings
James Vivian Leonardbiology Degrees
Biology
#12528
World Rank
#16010
Historical Rank
Cell Biology
#669
World Rank
#683
Historical Rank

Download Badge
Biology
James Vivian Leonard's Degrees
- PhD Cell Biology Stanford University
- Bachelors Biology University of California, Berkeley
Similar Degrees You Can Earn
Why Is James Vivian Leonard Influential?
(Suggest an Edit or Addition)James Vivian Leonard's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A lethal defect of mitochondrial and peroxisomal fission. (2007) (704)
- Impaired endothelial function occurs in the systemic arteries of children with homozygous homocystinuria but not in their heterozygous parents. (1993) (276)
- Urea cycle disorders. (2002) (271)
- Neonatal screening for inborn errors of metabolism: cost, yield and outcome. (1997) (269)
- Diagnosis and management of glutaric aciduria type I – revised recommendations (2011) (268)
- Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) (2002) (268)
- Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency (2006) (230)
- Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. (1996) (211)
- Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (1993) (199)
- Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. (2000) (197)
- Neurological implications of urea cycle disorders (2007) (175)
- Recommendations for the management of tyrosinaemia type 1 (2013) (171)
- Causes of and diagnostic approach to methylmalonic acidurias (2008) (169)
- Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I) (2002) (164)
- Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. (1987) (158)
- Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment (1994) (158)
- DELAYED SEPARATION OF THE UMBILICAL CORD, WIDESPREAD INFECTIONS, AND DEFECTIVE NEUTROPHIL MOBILITY (1979) (144)
- The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome (2001) (143)
- Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. (1995) (143)
- Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I) (2007) (140)
- A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. (1999) (140)
- Demyelination and decreased S‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency (1988) (124)
- Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK (1998) (120)
- Deficiency of respiratory chain complex I is a common cause of leigh disease (1996) (117)
- Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (1996) (113)
- Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis (1999) (110)
- Pancreatitis in patients with organic acidemias. (1994) (110)
- HYPERINSULINISM IN ASPHYXIATED AND SMALL-FOR-DATES INFANTS WITH HYPOGLYCAEMIA (1984) (109)
- Alternative pathway therapy for urea cycle disorders (1998) (108)
- Neurologic outcome of propionic acidemia. (1992) (108)
- Diagnosis and management of glutaric aciduria type I (1998) (103)
- Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases (2006) (101)
- A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. (1998) (101)
- Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. (1996) (101)
- Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. (1986) (100)
- Intercurrent illness in inborn errors of intermediary metabolism. (1992) (95)
- D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD) (2003) (95)
- Metabolic stroke in methylmalonic acidemia five years after liver transplantation. (2002) (92)
- The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a (1999) (91)
- Hyperinsulinaemic hypoglycaemia in small for dates babies. (1990) (91)
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (1991) (87)
- The role of liver transplantation in urea cycle disorders. (2004) (86)
- Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease (2014) (85)
- The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier (2006) (82)
- Combined liver-kidney transplantation in methylmalonic acidemia. (1998) (79)
- The nutritional management of urea cycle disorders. (2001) (79)
- Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I) (2007) (75)
- Familial giant cell hepatitis associated with synthesis of 3β,7α-dihydroxy- and 3β,7α,12α-trihydroxy-5-cholenoic acid (1987) (75)
- The management and outcome of propionic and methylmalonic acidaemia (1995) (74)
- Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. (2006) (73)
- Sources of propionate in inborn errors of propionate metabolism. (1990) (72)
- Recommendations for the management of galactosaemia (1999) (70)
- EFFECT OF NALOXONE IN A PREVIOUSLY UNDESCRIBED HYPOTHALAMIC SYNDROME A Disorder of the Endogenous Opioid Peptide System? (1980) (69)
- Liver transplantation for methylmalonic acidaemia (1999) (67)
- ACUTE ENCEPHALOPATHY AND HYPERAMMONAEMIA COMPLICATING TREATMENT OF ACUTE LYMPHOBLASTIC LEUKAEMIA WITH ASPARAGINASE (1986) (65)
- HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase (2013) (63)
- The significance of elevated CSF lactate (2005) (61)
- Glutaric aciduria and suspected child abuse (1999) (60)
- Chronic renal failure in methylmalonic acidaemia (2004) (59)
- Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. (1983) (59)
- Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry (1998) (58)
- Outcome of maple syrup urine disease. (1982) (58)
- Consensus guidelines for management of glycogen storage disease type 1b – European Study on Glycogen Storage Disease Type 1 (2002) (57)
- Outcome of tyrosinaemia type III (2001) (55)
- Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency (2003) (53)
- The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism (1995) (53)
- Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. (1996) (52)
- Clinical diversity of pyruvate dehydrogenase deficiency. (1994) (52)
- Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. (2006) (50)
- SODIUM VALPROATE AND ORNITHINE CARBAMYL TRANSFERASE DEFICIENCY (1981) (49)
- Hyperlipidaemia does not impair vascular endothelial function in glycogen storage disease type 1a. (1994) (48)
- Newborn screening for medium chain acyl CoA dehydrogenase deficiency (2006) (48)
- The long-term outcome of patients with glycogen storage diseases (1990) (47)
- Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. (1994) (46)
- Surgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood. (1992) (46)
- Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90. (1993) (46)
- A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (1998) (46)
- Organic Acids in Man. The Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias (1983) (46)
- The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation. (1992) (45)
- Biotinidase deficiency: a treatable leukoencephalopathy. (2004) (45)
- Consensus guidelines for management of glycogen storage disease type 1b—European study on glycogen storage disease type 1 (2007) (44)
- Cardiomyopathy in propionic acidaemia (1993) (43)
- Inherited disorders of 3-methylcrotonyl CoA carboxylation. (1981) (41)
- Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency (2004) (41)
- The use of metronidazole in management of methylmalonic and propionic acidaemias (1990) (40)
- Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients (2001) (40)
- Dietary treatment in late-onset acid maltase deficiency (1997) (40)
- Renal tubular dysfunction in methylmalonic acidaemia (1991) (39)
- Ornithine carbamoyl transferase deficiency: A neuropathological study (1984) (39)
- The impact of screening for propionic and methylmalonic acidaemia (2003) (39)
- Nesidioblastosis: evidence for autosomal recessive inheritance. (1991) (39)
- Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies (2011) (39)
- Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidaemia. (1989) (38)
- β-HYDROXY-β-METHYLGLUTARICACIDURIA PRESENTING AS REYE'S SYNDROME (1979) (38)
- Hepatic Mitochondrial 3-Hydroxy-3-Methylglutaryl-Coenzyme A Synthase Deficiency (1998) (38)
- Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia (2006) (38)
- Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1 (2002) (37)
- Regional variations in medium-chain acyl-CoA dehydrogenase deficiency (1995) (37)
- Bone mineralisation in type 1 glycogen storage disease (1995) (37)
- Glomerular and tubular function in glycogen storage disease (1995) (37)
- A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. (1980) (36)
- Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1 (2007) (36)
- Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (1993) (35)
- Glycogen storage disease: recommendations for treatment (1988) (35)
- N-Acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate (1998) (35)
- Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. (1997) (35)
- Hurler syndrome with cardiomyopathy in infancy. (1989) (34)
- Disorders of the Urea Cycle and Related Enzymes (2006) (33)
- Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. (1992) (33)
- Stable isotope studies in propionic and methylmalonic acidaemia (1997) (33)
- L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study (2005) (32)
- CONTRIBUTION OF AMINOACID CATABOLISM TO PROPIONATE PRODUCTION IN METHYLMALONIC ACIDAEMIA (1989) (32)
- Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. (1992) (30)
- Protein and leucine metabolism in maple syrup urine disease. (1990) (30)
- Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion (2002) (30)
- Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy. (1980) (30)
- Clinical and laboratory findings in referrals for mitochondrial DNA analysis (1998) (30)
- Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. (1998) (30)
- Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20‐bp deletion in the X‐linked pyruvate dehydrogenase E1α subunit gene (1993) (30)
- Acetoacetyl CoA Thiolase Deficiency Presenting as Ketotic Hypoglycemia (1987) (30)
- Resting energy expenditure in disorders of propionate metabolism. (2000) (29)
- Early recognition of metabolic decompensation (1997) (29)
- Use of biochemical profile in children's hospital: results of two controlled trials. (1975) (29)
- A SIMPLE SCREENING TEST FOR MEDIUM-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (1986) (29)
- In vivo enzyme activity in inborn errors of metabolism. (1990) (29)
- The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. (1994) (28)
- A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency. (1987) (28)
- Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia (2000) (28)
- Uncooked cornstarch--efficacy in type I glycogenosis. (1996) (28)
- Molecular genetic study of human arginase deficiency. (1992) (28)
- Micropenis: an important early sign of congenital hypopituitarism. (1984) (27)
- Late onset ornithine carbamoyl transferase deficiency in males. (1988) (27)
- Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch (1995) (26)
- The regulation of growth in glycogen storage disease type 1 (2003) (25)
- Hyperargininemia: a treatable inborn error of metabolism? (1997) (25)
- Long-term auditory and visual complications of biotinidase deficiency. (1985) (25)
- Rapid profiling of plasma organic acids by high performance liquid chromatography. (1985) (24)
- Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. (1985) (24)
- Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry (2002) (24)
- Guidelines for management of glycogen storage disease type I—European study on glycogen storage disease type I (ESGSD I) (2007) (23)
- Study of Liver Metabolism in Glucose-6-Phosphatase Deficiency (Glycogen Storage Disease Type 1A) by P-31 Magnetic Resonance Spectroscopy (1988) (23)
- How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency? (2004) (23)
- Patients with organic acidaemias have an altered thiol status (2012) (22)
- Garrod's Inborn Factors in Disease (1990) (22)
- The hepatic glycogen storage diseases — problems beyond childhood (1995) (21)
- Utilization of cornstarch in glycogen storage disease type Ia (2002) (21)
- Mitochondrial DNA Point Mutation T9176C in Leigh Syndrome (2000) (21)
- The significance of a high plasma ammonia value (2004) (21)
- Mitochondrial phosphoenolpyruvate carboxykinase deficiency (1986) (21)
- Assessment of energy expenditure in metabolic disorders (1997) (21)
- Measurement of propionate turnover in vivo using sodium [2H5]propionate and sodium [13C]propionate. (1989) (21)
- THE DETERMINATION OF PTERINS, BIOGENIC AMINE METABOLITES, AND AROMATIC AMINO ACIDS IN CEREBROSPINAL FLUID USING ISOCRATIC REVERSE PHASE LIQUID CHROMATOGRAPHY WITH IN SERIES DUAL CELL COULOMETRIC ELECTROCHEMICAL AND FLUORESCENCE DETECTION:- USE IN THE STUDY OF INBORN ERRORS OF DIHYDROPTERIDINE REDUCT (1985) (21)
- Diversity of congenital disorders of glycosylation (2001) (21)
- Enzyme Studies in Combined Carboxylase Deficiency (1985) (20)
- Disordered intestinal function in glycogen storage disease (1978) (20)
- Clouds still gathering over galactosaemia (1994) (20)
- Immunological Phenotyping of Fibroblast Cultures from Patients with a Mitochondrial Respiratory Chain Deficit (2001) (19)
- Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder (2008) (19)
- Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. (1998) (19)
- Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants (2008) (19)
- Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency (1995) (19)
- Propionic acidaemia: a neuropathological study of two patients presenting in infancy (1991) (19)
- The Eye and Inherited Metabolic Disease: A Review (1988) (18)
- Intestinal Absorption of Amino Acids and Peptides in Hartnup Disorder (1976) (18)
- Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry (1982) (17)
- Cardiomyopathy of glycogen storage disease type III (2005) (17)
- Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation. (1983) (17)
- Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe. (1985) (17)
- Hepatic imaging with computed tomography of chronic tyrosinaemia type 1. (1990) (17)
- Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency (1994) (17)
- Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots. (1992) (16)
- Mitochondrial phosphoenolpyruvate carboxykinase deficiency (2005) (16)
- Biotimdcsse Deficiency: Early Neurological Presentation (1994) (16)
- Impaired neurotransmitter amine metabolism in arginase deficiency. (1985) (16)
- Biotinidase deficiency: early neurological presentation. (1994) (15)
- Hyperorgininemia: a treatable inborn error of metabolism (1997) (15)
- Galactosaemia (1995) (15)
- Effect of Insulin on Leucine Kinetics in Maple Syrup Urine Disease (1987) (15)
- Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia (2001) (15)
- Plasma thiol status is altered in children with mitochondrial diseases (2012) (15)
- Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. (1983) (15)
- Komrower lecture: Treatment of inborn errors of metabolism: A review (2006) (15)
- Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III (1995) (15)
- Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. (2005) (15)
- Effect of methionine loading and endogenous hypermethioninaemia on blood mercaptans in man. (1988) (15)
- Acute metabolic encephalopathy: A review of causes, mechanisms and treatment (1989) (15)
- The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24) (1997) (14)
- Blood lipids and endothelial function in glycogen storage disease type III (1999) (14)
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (1986) (13)
- Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia. (1989) (13)
- A Study of Galactose Intolerance in Human and Rat Liver In Vivo by 31P Magnetic Resonance Spectroscopy (1992) (13)
- Glucose production rates in type 1 glycogen storage disease (1990) (13)
- HYPERAMMONAEMIA AND DISSEMINATED HERPES SIMPLEX INFECTION IN THE NEONATAL PERIOD (1982) (13)
- Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia (1995) (13)
- The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone. (1984) (13)
- A girl with the Weaver syndrome. (1987) (12)
- The early diagnosis and management of inborn errors around the time of birth (2000) (12)
- Tetrahydrobiopterin in dihydropteridine reductase deficiency. (1986) (11)
- IS ALANINE OF BENEFIT FOR SUBJECTS WITH ACID MALTASE DEFICIENCY? † 840 (1996) (11)
- Lactulose in trimethylaminuria, the fish-odour syndrome. (1989) (11)
- ULTRASTRUCTURE OF LIVER IN INHERITED DISORDERS OF FAT OXIDATION (1987) (11)
- Fatty infiltration in the liver in medium chain acyl CoA dehydrogenase deficiency. (1991) (10)
- Chronic inflammatory bowel disease in glycogen storage disease type 1B (1991) (10)
- The treatment of congenital lactic acidoses (1996) (10)
- Partial lipodystrophy syndromes – a further male case (1990) (10)
- Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (2003) (10)
- Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated (2001) (9)
- Parenteral nutrition in propionic acidemia and methylmalonic acidemia. (1990) (9)
- Alpha-1-antitrypsin deficiency, bleeding diathesis, and intracranial haemorrhage. (1982) (9)
- The management and long term outcome of organic acidaemias (1984) (9)
- Early onset of complete heart block in Pearson syndrome (2000) (9)
- EARLY PRENATAL DIAGNOSIS OF HEREDITARY TYROSINAEMIA (1985) (9)
- Surgical treatment of nesidioblastosis (1986) (9)
- Cerebral energy metabolism in isovaleric acidaemia. (1996) (9)
- In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism (1990) (8)
- Natural history of glutaric aciduria type 1 (2000) (8)
- Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (1997) (8)
- Inborn errors of the urea cycle. (1987) (8)
- Aetiology of Reye's syndrome. (1984) (8)
- Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity. (1985) (7)
- Arginase deficiency presenting with convulsions (1994) (7)
- What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? (2003) (7)
- Intermittent maple syrup disease (1996) (7)
- Increased resting energy expenditure in glycogen storage disease type Ia (1998) (7)
- Hepatic glycogen storage disease. (1987) (6)
- Improvement in exercise tolerance in isovaleric acidaemia with L-carnitine therapy (1998) (6)
- Protein turnover in critically ill children (1997) (6)
- Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (2001) (6)
- Focal fatty liver change in glycogenosis type 1 a (1995) (6)
- Improving the outcome for fatty acid oxidation disorders. (2000) (5)
- Obstacles to timely neonatal screening in North Thames (1998) (5)
- Problems in the congenital lactic acidoses. (1982) (5)
- Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation (1981) (5)
- Acute metabolic encephalopathy: An introduction (2005) (5)
- beta-Hydroxy-beta-methyglutaricaciduria presenting as Reye's syndrome. (1979) (5)
- Recurrent rhabdomyolysis in a child with glutaric aciduria type I (1999) (5)
- Haemodialysis for metabolic decompensation in propionic acidaemia (1987) (5)
- Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. (1999) (5)
- Urinary lactate excretion in type 1 glycogenosis — a marker of metabolic control or renal tubular dysfunction? (1996) (5)
- Stable isotopes in inborn errors of metabolism (1997) (5)
- Diagnosis and management of mitochondrial respiratory chain disorders (2003) (5)
- The early detection and management of inborn errors presenting acutely in the neonatal period (1985) (5)
- Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency (1995) (5)
- A pathogenic glutamate‐to‐aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1 (2003) (5)
- Recent advances in amino acid and organic acid metabolism (2007) (5)
- PROPIONATE PRODUCTION IN METHYLMALONIC ACIDAEMIA (1989) (5)
- The investigation of inborn errors in vivo using stable isotopes (2005) (4)
- The analysis of trimethylamine in body fluids by a direct medium resolution mass spectrometric method. (1984) (4)
- β-HYDROXY-β-METHYLGLUTARICACIDURIA, REYE'S SYNDROME, AND ECHOVIRUS 11 (1979) (4)
- A lethal autosomal dominant defect of mitochondrial and peroxisomal fission (2007) (4)
- Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency (1997) (4)
- A simple isotopic technique for assessing vitamin responsivenessin vivo in propionic acidaemia (1990) (4)
- Methylgenesis from betaine in cystathionine-beta-synthase deficiency. (1993) (4)
- Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria (2003) (3)
- T-cell leukaemia in a young boy presenting with central nervous system symptoms. (1976) (3)
- Teratogenic inborn errors of metabolism. (1986) (3)
- Diagnosis and early management of inborn errors of metabolism presenting around the time of birth (2006) (3)
- The investigation and the initial management of children with suspected metabolic disease presenting acutely (2011) (3)
- Lysosomal Storage Disease: Biochemical and Clinical Aspects (1988) (3)
- Pseudohypoaldosteronism. (1980) (3)
- Newborn screening for inborn errors of metabolism: principles, policies and weighing the evidence (2011) (3)
- Congenital Metabolic Diseases (1985) (3)
- SUDDEN INFANT DEATH AND GLYCOGEN STORAGE DISEASE (1989) (3)
- BRACHYDACTYLY AND MENTAL-RETARDATION - A NEW HAPLOINSUFFICIENCY SYNDROME (1995) (3)
- Disorders of the Urea Cycle (2000) (3)
- POLYCYSTIC OVARIES AND GLUCOSETOLERANCE IN HEPATIC GLYCOGEN STORAGE DISEASE (1993) (3)
- (3) Arginosuccinic aciduria (1985) (2)
- Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency. (1987) (2)
- Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. (2004) (2)
- Recent Advances in Inborn Errors of Metabolism (1988) (2)
- Inborn Errors of Cobalamin (Vitamin B12) Metabolism (1990) (2)
- Leucine turnover in maple syrup urine disease (1983) (2)
- Consensus case definitions for MCADD among infants with presumptive positive newborn screening results (2006) (2)
- Leucine and glucose kinetics in glycogen storage disease type IIIa (1997) (2)
- Long-term survival post early liver transplantation in organic acidaemias (2001) (2)
- Evaluation of cofactor responsiveness (1985) (2)
- Stable isotope studies in inborn errors of metabolism – implications and conclusions (1997) (2)
- Intercurrent illness ininborn errorsofintermediary metabolism (1992) (2)
- Glycogen storage disease types 1 and 2: recent developments, management and outcome (2007) (2)
- The role of magnetic resonance spectroscopy in the investigation of lactic acidosis and inborn errors of energy metabolism (1996) (2)
- Hepatic Sugar Phosphate Accumulation and Phosphate Depletion in Type 1 Glycogen Stoeage Disease Detected by 31P Magnetic Resonance Spectroscopy (MRS) (1986) (1)
- A novel homozygous deletion in NDUFS4 causes complex I deficient Leigh syndrome (2011) (1)
- Proceedings: Absorption of amino acids and peptides in Hartnup disease. (1974) (1)
- SPECTRUM OF MEDIUM CHAIN ACYL COA DEHYDROGENASE (MCAD) MUTATIONS IDENTIFIED FROM NEWBORN SCREENING OF 1.56 MILLION INFANTS FROM THE UK (2009) (1)
- Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) (2003) (1)
- An evaluation of urine lactate for detection of inborn errors of metabolism. (1984) (1)
- , Steve predictive value and test validity based on 1 . 5 million screened babies Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England : prevalence (2011) (1)
- Emergency Management of Metabolic Diseases (2006) (1)
- Mitochondrial DNA depletion syndrome: A familial disorder showing variable clinical penetration (2000) (1)
- Neuropathologic changes in ornithine carbamoyl transferase deficiency. (1986) (1)
- INBORN ERRORS OF METABOLISM AND UNEXPECTED INFANT DEATHS (1988) (1)
- Chronic mucormycosis manifesting as hydrocephalus (0)
- Raised cerebrospinal fluid glycerol concentration associated with use of dichloroacetate (1998) (0)
- Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency (GDD) 859 (1996) (0)
- Inherited Disorders of Carbohydrate Metabolism (1981) (0)
- Surgical treatmentofhyperinsulinaemi c hypoglycaemia ininfancy andchildhood (1992) (0)
- Adults with inherited disorders of intermediary metabolism. (1997) (0)
- The Effect of L-Carnitine Therapy on Exercise Tolerance in Medium-Chain Acylcoenzyme a Dehydrogenase (MCAD) Deficiency (1997) (0)
- Biochemical tests and quality control. (1980) (0)
- The diagnostic value of complex II determination in the identification of patients with mitochondrial DNA depletion (2001) (0)
- Fat-derived fuels during a 24 hour fast in children (1983) (0)
- Disordered Intestinal Function in Glycogen Storage Disease (1979) (0)
- Metabolic Disease in Childhood (1979) (0)
- COMBINED LIVER AND KIDNEY TRANSPLANTATION IN THE TREATMENT OF VITAMIN B12 RESISTANT METHYLMALONIC ACIDAEMIA. (1999) (0)
- The effect of ethanol on glucose production in phosphorylase b kinase deficiency (1989) (0)
- Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions (2001) (0)
- Impaired Endothelial Function Occurs in the Systemic Arteries of Children it Homozygous cysti ri but NotIn Their Heterozygous Parents (2016) (0)
- Mitochondrial 3-hydroxy-3-methylCoA synthase deficiency: causal mutations in two patients (2001) (0)
- Study of Hepatic Fructose Metabolism in Heterozygotes for Aldolase-B Deficiency by 31-Phosphorus Magnetic Resonance Spectroscopy (31-P MRS) (1987) (0)
- Biochemical Tests and Quality Control (1980) (0)
- Acute presentations of inherited metabolic disorders: investigation and initial management☆ (2015) (0)
- A novel heteroplasmic point mutation in cytochrome c oxidase (COX) subunit II associated with mitochondrial myopathy and COX deficiency (1998) (0)
- METABOLIC ENCEPHALOPATHY: EARLY DIAGNOSIS, MECHANISMS AND MANAGEMENT (2008) (0)
- Enzyme studies in combined carboxylase deficiency. (1985) (0)
- Feeding diYculties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (2001) (0)
- Effect of pancreatin on uncooked cornstarch absorption in patients with glycogen storage disease type Ia (GSD-Ia) (1998) (0)
- Glycogen storage disease types 1 and 2 (2002) (0)
- INTERMITTENT MSUD -THE IMPORTANCE OF WHOLE BODY LEUCINE OXIDATION MEASUREMENTS- • 839 (1996) (0)
- Pseudo hypoaldosteronism (PHA). Use of plasma renin/aldosterone profile and gas chromatogrphic/mass sepctrometric (GC/MS) analysis of urine in diagnosis. (1979) (0)
- Genetic Biochemical Disorders (1986) (0)
- Effects of Persistent Elevation of Plasma Leucine Concentration on Protein Metabolism using Maple Syrup Urine Disease as A Model (1989) (0)
- Techniques for studying hepatic metabolismin vivo (1991) (0)
- Thiol status in metabolic disease (2001) (0)
- H2-breath tests--importance of adequate storage of breath samples. (1997) (0)
- An Introduction to Inherited Metabolic Diseases (1986) (0)
- A syndrome in the rat resembling pink disease (1984) (0)
- The dietary management of inborn errors of metabolism. (1985) (0)
- Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement ofcis-4-decenoic acid in plasma (1991) (0)
- P58 Mitochondrial respiratory chain enzyme deficiency expressed during muscle development (2011) (0)
- False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency (2000) (0)
- beta-hydroxy-beta-methylglutaricaciduria, Reye's syndrome, and Echovirus 11. (1979) (0)
- Liver pathology in mitochondrial DNA (mtDNA) depletion syndrome (1997) (0)
- MULTIPLE RESPIRATORY CHAIN DEFECTS CAUSED BY 3-HYDROXY-ISOBUTYRYL COA HYDROLASE DEFICIENCY (2011) (0)
- NEONATAL HYPERAMMONAEMIA AND HERPES SIMPLEX INFECTION (1982) (0)
This paper list is powered by the following services:
What Schools Are Affiliated With James Vivian Leonard?
James Vivian Leonard is affiliated with the following schools: