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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2005
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782211/
https://www.ncbi.nlm.nih.gov/pubmed/15953877
http://dx.doi.org/10.3346/jkms.2005.20.3.499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782211/
https://www.ncbi.nlm.nih.gov/pubmed/15953877
http://dx.doi.org/10.3346/jkms.2005.20.3.499

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