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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Academy of Medical Sciences 2005
Konular:
Case Report
Online Erişim: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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