A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b

We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and short stature on admission and had typical clinical symptoms of GSD as well as chronic neutropenia and infla...

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Detalhes bibliográficos
Main Authors: Han, Sung-Hee, Ki, Chang-Seok, Lee, Ji-Eun, Hong, Young-Jin, Son, Byong-Kwan, Lee, Kyung-Hee, Choe, Yon-Ho, Lee, Soo-Youn, Kim, Jong-Won
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2005
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2782211/
https://ncbi.nlm.nih.gov/pubmed/15953877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2005.20.3.499
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