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Glycogen storage disease type Ib: the first case in Taiwan.

Pediatrics and neonatology - 1 Jun 2009

Hsiao Hui-Ju, Chang Hsiu-Hao, Hwu Wuh-Liang, Lam Ching-Wan, Lee Ni-Chung, Chien Yin-Hsiu

Abstract excerpt

Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. Theproband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes...

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PMID: 19579760
DOI: 10.1016/S1875-9572(09)60048-6

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