glycogen storage disease type VI : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 3 페이지: 1

Glycogen Storage Disease Type VI - 새창 A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
Synonyms : Glycogenosis Type VI, Glycogenosis VI, Hers' Disease, Disease, Hers, Disease, Hers', Her Disease, Type VI, Glycogenosis
Glycogen Storage Disease Type VII - 새창 An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
Synonyms : Deficiency, Muscle Phosphofructokinase, Muscle Phosphofructokinase Deficiency, Tarui's Disease, Deficiencies, Muscle Phosphofructokinase, Disease, Tarui, Disease, Tarui's, Muscle Phosphofructokinase Deficiencies, Phosphofructokinase Deficiencies, Muscle
Glycogen Storage Disease Type VIII - 새창 An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Synonyms :