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Glycogen branching enzyme deficiency in adult polyglucosan body disease

✍ Scribed by Claudio Bruno; Serenella Servidei; Sara Shanske; George Karpati; Stirling Carpenter; David McKee; Richard J. Barohn; Michio Hirano; Ziad Rifai; Dr. Salvatore Dimauro

Book ID
102708547
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
856 KB
Volume
33
Category
Article
ISSN
0364-5134

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Adult polyglucosan body disease in Ashke
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen-branching enzyme gene
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Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that

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✍ Dr. A. Lossos; V. Barash; D. Soffer; Z. Argov; M. Gomori; Z. Ben-Nariah; O. Abra πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 824 KB

## Abstract We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and