High Risk of Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency among Gypsies

Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

A. Kimberly Iafolla, Robert J. Thompson, Charles R. Roe · The Journal of Pediatrics · 1994 · 277 citations

Life Sciences, Biochemistry, Pediatrics +13

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Yoichi Matsubara, Kuniaki Narisawa, Shigeaki Miyabayashi et al. · Biochemical and Biophysical Research Communications · 1990 · 109 citations

Life Sciences, Genetics, Molecular Genetics +14

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

Ichiro Yokota, Yasuhiro Indo, Paul M. Coates et al. · Journal of Clinical Investigation · 1990 · 102 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

Daniel P. Kelly, Alison J. Whelan, M L Ogden et al. · Proceedings of the National Academy of Sciences · 1990 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

Niels Gregersen, Vibeke Winter, Diana Curtis et al. · Human Heredity · 1993 · 69 citations

Life Sciences, Genetics, Molecular Genetics +15