Art

J-GLOBAL ID：200902137418532650   Reference number：95A0499830

Genetic Analysis of a Family of Lactate Dehydrogenase A Subunit Deficiency.

乳酸デヒドロゲナーゼAサブユニット欠損症家系の遺伝子解析

Author (3)： TAKAHASHI Y (Hamamatsu Univ. School of Medicine, Shizuoka) ,  MIYAJIMA H (Hamamatsu Univ. School of Medicine, Shizuoka) ,  KANEKO E (Hamamatsu Univ. School of Medicine, Shizuoka)
Material： Internal Medicine  (Intern Med)
Volume： 34  Issue： 5  Page： 326-329  Publication year： May. 1995 
JST Material Number： Z0157B  ISSN： 0918-2918  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： inborn errors of metabolism ,...
Semi thesaurus term： 乳酸デヒドロゲナーゼAサブユニット欠損症 ,...

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JST classification (1)： Metabolic diseases,nutritional diseases in general.  (GD05010J)

Reference (13)：

• 1) Kanno T, Sudo K, Takeuchi I, et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta 108: 267, 1980.
• 2) Maekawa M, Kanda S, Sudo K, Kanno T. Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies. Am J Hum Genet 36: 1204, 1984.
• 3) Bryan W, Lewis SF, Bertocci L, et al. Muscle lactate dehydrogenase deficiency: a disorder of anaerobic glycogenolysis associated with exertional myoglobinuria. Neurology 40 (suppl 1): 203, 1990.
• 4) Maekawa M, Sudo K, Kanno T, Li SS-L. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem Biophys Res Comm 168: 677, 1990.
• 5) Miyajima H, Takahashi Y, Suzuki M, Shimizu T, Kaneko E. Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. Neurology 43: 1414, 1993.

Terms in the title (5)： 乳酸デヒドロゲナーゼ ,  サブユニット ,  欠損 ,  家系 ,  遺伝子解析