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Article

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.

Human mutation - 1 Jan 1997

Kroos M A, Van der Kraan M, Van Diggelen O P, Kleijer W J, Reuser A J

Abstract excerpt

Mutation analysis was performed in a nonconsanguineous Dutch caucasian family with a grandfather presenting the first symptoms of glycogen storage disease type II (acid alpha-glucosidase deficiency) in the sixth decade of life and a grandchild with onset of symptoms shortly after birth. The grandfather was identified as compound heterozygote having the IVS1(-13T-->G)/delta T525 combination of mutant acid...

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Identifiers

PMID: 8990003
DOI: 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M

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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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