MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1
Glycogen Storage Disease Type IV - 새창
An autosomal recessive metabolic disorder due to a deficiency in expression of GLYCOGEN BRANCHING ENZYME 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
Synonyms : Andersen's Disease, Deficiency, Brancher, Type IV Glycogenosis, Amylopectinoses, Andersens Disease, Brancher Deficiencies, Deficiencies, Brancher, Disease, Andersen, Disease, Andersen's, Glycogenosis, Type IV
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MeSH(Medical Subject Headings) 유사 검색 (http://www.nlm.nih.gov) 결과 : 0 페이지: 1
