J V Leonard

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

Bridget Wilcken, Kit‐wah Leung, Jeremy Hammond et al. · The Lancet · 1993 · 220 citations

Infertility, Genetics, Fetal Medicine +8

Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids.

Peter T. Clayton, J V Leonard, A. M. Lawson et al. · Journal of Clinical Investigation · 1987 · 217 citations · Full text

Immunology, Pathology, Alpha-dihydroxy-and 3 +23

HYPERINSULINISM IN ASPHYXIATED AND SMALL-FOR-DATES INFANTS WITH HYPOGLYCAEMIA

Jane Collins, J V Leonard · The Lancet · 1984 · 142 citations

Neonatology, Infant Nutrition, Hematology +3

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.

Jianjun Shen, Yizhong Bao, H.M. Liu et al. · Journal of Clinical Investigation · 1996 · 141 citations · Full text

Genetics, Enzyme Gene, Glycobiology +17

Demyelination and decreased <i>S</i> ‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency

I Smith, Teodoro Bottiglieri, Janet Perry et al. · Neurology · 1988 · 125 citations

Methionine Concentrations, Aldo-keto Reductase, Biochemistry +15