James Vivian Leonard

James Vivian Leonard's AcademicInfluence.com Rankings

Biology

#12528

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#16010

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Cell Biology

#669

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#683

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Biology

James Vivian Leonard's Degrees

PhD Cell Biology Stanford University
Bachelors Biology University of California, Berkeley

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James Vivian Leonard's Published Works

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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)

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