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Sedimentation characteristics of native glycogens from human glycogen-storage diseases

โœ Scribed by Ernest Bueding; James Sidbury; Stanley A. Orrell Jr.


Book ID
115765938
Publisher
Elsevier Science
Year
1970
Tongue
English
Weight
506 KB
Volume
3
Category
Article
ISSN
0006-2944

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Glycogen storage disease type II: Geneti
โœ Monique M. P. Hermans; Marian A. Kroos; Jan A. M. Smeitink; Ans T. van der Ploeg ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 192 KB ๐Ÿ‘ 1 views

Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the characterization of the molecular defects in 6 infantile patients from Turkish ancestry. Five of the 6 patients had reduced levels of the lysosomal a-glucosidase