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Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease

✍ Scribed by Harry L. Greene; Larry L. Swift; Howard R. Knapp


Book ID
117163358
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
558 KB
Volume
119
Category
Article
ISSN
1097-6833

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Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in th