Jean‐Paul Harpey

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Uta Francke, John F. Harper, Basil T. Darras et al. · PubMed · 1987 · 92 citations

Life Sciences, Genetics, Molecular Genetics +16

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: A case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy

Jean‐Paul Harpey, David S. Rosenblatt, Bernard A. Cooper et al. · The Journal of Pediatrics · 1981 · 47 citations

Public Health, Biochemistry, Pediatrics +16

Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother

Jean‐Paul Harpey, C. Charpentier, Stephen I. Goodman et al. · The Journal of Pediatrics · 1983 · 45 citations

Life Sciences, Biochemistry, Obstetrics +14

Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency

Jean‐Paul Harpey, C. Charpentier, Marie Coudé et al. · The Journal of Pediatrics · 1987 · 45 citations

Life Sciences, Biochemistry, Pediatrics +9

Treatment of Fragile-X

Jean‐Paul Harpey · PEDIATRICS · 1982 · 22 citations

Life Sciences, Genetics, Pharmacotherapy +14