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Article

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.

Journal of perinatology : official journal of the California Perinatal Association - 1 Oct 2012

Escobar L F, Wagner S, Tucker M, Wareham J

Abstract excerpt

A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with severe neuromuscular findings at birth. The pregnancy was further complicated by polyhydramnios and depressed fetal...

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Identifiers

PMID: 23014386
DOI: 10.1038/jp.2011.178

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