๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

โœ Scribed by Nina Raben; Ralph C. Nichols; Cornelius Boerkoel; Paul Plotz

Book ID
102538588
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
443 KB
Volume
18
Category
Article
ISSN
0148-639X

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๐Ÿ“œ SIMILAR VOLUMES

Glycogenosis type II (acid maltase defic
Glycogenosis type II (acid maltase deficiency)
โœ Dr. A. J. J. Reuser; Dr. M. A. Kroos; Dr. M. M. P. Hermans; Dr. A. G. A. Bijvoet ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 826 KB

Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous.

Lysosomal Storage Disorders || Pompe Dis
Lysosomal Storage Disorders || Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency
โœ Barranger, John A.; Cabrera-Salazar, Mario A. ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› Springer US ๐ŸŒ English โš– 343 KB

The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough revie