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Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

Human mutation - 1 Jan 1998

Hermans M M, Kroos M A, Smeitink J A, van der Ploeg A T, Kleijer W J, Reuser A J

Abstract excerpt

Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal alpha-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 alpha-glucosidase precursor. Conversion to mature enzyme was impaired in all cases, and the lysosomal alpha-glucosidase...

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Identifiers

PMID: 9521422
DOI: 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.PMID 9521422Read ↗

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Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.Semantic proximity Read ↗

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