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Article

X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.

Clinica chimica acta; international journal of clinical chemistry - 15 Nov 2013

Cho Sun Young, Lam Ching-wan, Tong Sui-Fan, Siu Wai-Kwan

Abstract excerpt

BACKGROUND: Glycogen storage disease (GSD) is a group of inherited metabolic disorders due to enzymatic deficiency involved in glycogen breakdown. In various subtypes of GSD, GSD IXa is an X-linked recessive disorder, which only manifested in males. Here, we report a case of X-linked GSD IXa manifested in a female Chinese patient accompanying a skewed X-chromosome inactivation (XCI). METHODS: A 29-y-old Chinese...

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PMID: 24055370
DOI: 10.1016/j.cca.2013.08.026

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