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3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

✍ Scribed by M Pineda; M A Vilaseca; R Artuch; S Santos; MM García González; I Sau; A Aracil; E Van Schaftingen; J Jaeken

Book ID
111129264
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
311 KB
Volume
42
Category
Article
ISSN
0012-1622

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Glutamate dehydrogenase deficiency in th
Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome
✍ Dr Andreas Plaitakis; William J. Nicklas; Robert J. Desnick 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 732 KB

## Abstract Four nicotinamide‐adenine dinucleotide phosphate‐requiring enzymes were measured in disrupted cultured skin fibroblasts from a 19‐year‐old patient with juvenile onset of a spinocerebellar and extrapyramidal syndrome. There was marked reduction in the activity of glutamate dehydrogenase