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Normalization of short-chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy

✍ Scribed by Dr. Stefano Didonato; Cinzia Gellera; Dionisio Peluchetti; Graziella Uziel; Antonella Antonelli; Giacomo Lus; Marco Rimoldi

Book ID: 102706282
Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 867 KB
Volume: 25
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410250510

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✍ L. Farnsworth; I. M. Shepherd; M. A. Johnson; L. A. Bindoff; Dr D. M. Turnbull 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 442 KB

## Abstract Defects of short‐chain acylcoenzyme A dehydrogenase (SCAD) may cause a severe metabolic illness in children or a lipid storage myopathy in adults. The childhood form is associated with low enzyme activity, but the synthesis of a normal‐size enzyme protein in cultured skin fibroblasts. W