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제Ia형 당원병 1례 (Glycogen Storage Disease , Type Ia)

Other Titles
 A Case of Glycogen Storage Disease Type Ia Confirmed by Biopsy and Enzyme Assay 
 문상애  ;  노광식  ;  김병길  ;  정현주  ;  박영년  ;  김명준 
 Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지), Vol.2(1) : 77-81, 1998 
Journal Title
 Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지) 
Issue Date
The author exprienced a case of glycogen storage disease type Ia(GSD-I) in an 18-year-old male patient who was admitted to our hospital due to proteinuria and hypertension. he was suspected to have GSD when 12 years old because of his family history of short stature and hepatomegaly. On admission, physical examination revealed short stature, heparomegaly, and The diagnosis of GSD-I was confirmed by compatible liver biopsy finding and enzyme assay which erealeddeficiency of glcose-6-phosphatase if hepatocyte. Sympromatic treatment was done using antihypertensive drugs and allopurinol with diet control. The authors report a case of glycogen storage disease type Ia completely confirmed by typical clinical manifestation, pathologic findings of the liver and the kidney, and the result of enzyme assay which revealed deficiency of glucose-6-phosphatase in hepatocytes with brief review fo related literatures.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Myung Joon(김명준) ORCID logo https://orcid.org/0000-0002-4608-0275
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