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1. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency [show details]
…Human PGAM is a dimer consisting of different amounts of muscle (MM) isozyme, brain (BB) isozyme, and the intermediate hybrid (MB) isozyme. Inheritance is autosomal recessive. Various distinct pathogenic variants…
2. 希な赤血球酵素障害rare rbc enzyme disorders [show details]
…– There are four hexokinase isozymes, each one is coded for by a different gene (HK1, HK2, HK3, HK4). The HK1 gene on chromosome 10 encodes RBC hexokinase . This HK isozyme also is present in lymphocytes …
3. アスピリン：リウマチ性疾患における作用機序、主な毒性、および使用aspirin mechanism of action major toxicities and use in rheumatic diseases [show details]
…site of aspirin and nonsalicylate NSAID binding . Mammalian cells contain two related but unique isozymes of COX: PG endoperoxide H2 synthase-1 and -2 (COX-1 and COX-2, respectively). Both catalyze the …
4. グリコーゲン代謝のその他の障害：GLUT2欠損症およびアルドラーゼA欠損症other disorders of glycogen metabolism glut2 deficiency and aldolase a deficiency [show details]
…#611881) is a rare GSD associated with hereditary hemolytic anemia. In the glycolytic pathway, three isozymes of aldolase (A, B, and C) are responsible for the conversion of fructose-1,6-biphosphate into g …
5. 家族性アルドステロン症familial hyperaldosteronism [show details]
…the zona fasciculata. Two isozymes of 11-beta-hydroxylase encoded by two genes on chromosome 8 are responsible for the biosynthesis of aldosterone and cortisol : The isozyme in the zona glomerulosa (CYP11B2 …