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Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

✍ Scribed by Toshika Okumiya; Marian A. Kroos; Laura Van Vliet; Hiroaki Takeuchi; Ans T. Van der Ploeg; Arnold J.J. Reuser


Book ID
116987926
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
542 KB
Volume
90
Category
Article
ISSN
1096-7192

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✍ Monique M. P. Hermans; Marian A. Kroos; Esther De Graaff; Ben A. Oostra; Arnold 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 503 KB

The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut