Ontology highlight
ABSTRACT:
SUBMITTER: Han SH
PROVIDER: S-EPMC2782211 | biostudies-literature | 2005 Jun
REPOSITORIES: biostudies-literature
Han Sung-Hee SH Ki Chang-Seok CS Lee Ji-Eun JE Hong Young-Jin YJ Son Byong-Kwan BK Lee Kyung-Hee KH Choe Yon-Ho YH Lee Soo-Youn SY Kim Jong-Won JW
Journal of Korean medical science 20050601 3
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 inflammatory bowel disease. Mutation analysis of the glucose 6-phosphate translocase 6-phosphate translocase (SLC37A4) gene revealed that the patient was a compound heterozygote of two different mutations ...[more]