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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Academy of Medical Sciences 2005
Schlagworte:
Case Report
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge