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Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV

โœ Scribed by Tara L. Ward; Stephanie J. Valberg; David L. Adelson; Colette A. Abbey; Matthew M. Binns; James R. Mickelson


Book ID
106015084
Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
153 KB
Volume
15
Category
Article
ISSN
0938-8990

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Prenatal diagnosis of glycogen storage d
โœ Jianjun Shen; Hui-Ming Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 123 KB ๐Ÿ‘ 1 views

Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Cur