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Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

✍ Scribed by Ausems, M G E M; Verbiest, J; Hermans, M M P; Kroos, M A; Beemer, F A; Wokke, J H J; Sandkuijl, L A; Reuser, A J J; van der Ploeg, A T


Book ID
110024869
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
176 KB
Volume
7
Category
Article
ISSN
1018-4813

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Glycogen storage disease type II: Geneti
✍ Monique M. P. Hermans; Marian A. Kroos; Jan A. M. Smeitink; Ans T. van der Ploeg πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 192 KB πŸ‘ 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