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Article

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

European journal of pediatrics - 1 Oct 2002

Matern Dietrich, Seydewitz Hans Hermann, Bali Deeksha, Lang Christine, Chen Yuan-Tsong

Abstract excerpt

UNLABELLED: Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. Other forms of GSD I (GSD I non-a) are characterized by the additional symptom of frequent infections caused by neutropenia and...

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PMID: 12373566
DOI: 10.1007/s00431-002-0998-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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