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Mutation analysis in glycogen storage disease type

✍ Scribed by Andreas R. Janecke; Martin Lindner; Martin Erdel; Ertan Mayatepek; Dorothea Möslinger; Teodor Podskarbi; Friedrich Fresser; Silvia Stöckler-Ipsiroglu; Georg F. Hoffmann; Gerd Utermann

Publisher
Springer
Year
2000
Tongue
English
Weight
63 KB
Volume
107
Category
Article
ISSN
0340-6717

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Glycogen storage disease type II: Geneti
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry
✍ Monique M. P. Hermans; Marian A. Kroos; Jan A. M. Smeitink; Ans T. van der Ploeg 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 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