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Article

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.

Journal of inherited metabolic disease - 1 Dec 2008

Eminoglu T F, Tumer L, Okur I, Olgunturk R, Hasanoglu A, Gonul I I, Dalgic B

Abstract excerpt

We report a 13-year-old boy with multisystem involvement secondary to accumulation of amylopectin-like material. He was born to consanguineous parents at full term without any complications and his maternal perinatal history was uneventful. His parents were cousins. He had normal growth and development except for his weight. His sister died from an unexplained cardiomyopathy at the age of 8 years. Our patient's...

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Identifiers

PMID: 18392749
DOI: 10.1007/s10545-008-0819-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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