A juvenile variant of glycogenosis IV (Andersen disease)

descriptionPublicationkeyboard_double_arrow_right Article 01 Aug 1986 English Publisher:Springer Science and Business Media LLCJournal:European Journal of Pediatrics, volume 145, pages 179-181 (issn: 0340-6199, eissn: 1432-1076,

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Authors: A S, Guerra; O P, van Diggelen; F, Carneiro; R M, Tsou; S, Simoes; N T, Santos;

doi: 10.1007/bf00446059

pmid: 3464425

A juvenile variant of glycogenosis IV (Andersen disease)

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Abstract

An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.

Related Organizations

Erasmus University Rotterdam
Netherlands
Hospital de São João
Portugal

Keywords

Glycogen Storage Disease Type IV, Liver, 1,4-alpha-Glucan Branching Enzyme, Humans, Female, Child, Glycogen Storage Disease, Glycogen

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