Upon whole‐exome sequencing, he was diagnosed with 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh‐like disease and/or organic aciduria....
建议收到该3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial (HIBCH) Antibody产品后,储存温度为-20°C。避免重复冻融 其他 Abbexa总部位于英国剑桥的剑桥科学园,是一家专业的全球抗体供应商和蛋白质供应商,致力于为生命科学、药物开发和生物技术领域的科学家和研究者提供最佳的客户体验和高质量的产品。产品涵盖一抗、...
3-hydroxyisobutyryl-CoA hydrolase 中文名: 3-hydroxyisobutyryl-CoA hydrolase 中文别名: CBNumber: CB61343562 分子式: 分子量: 0 MOL File: Mol file 化学性质安全信息用途供应商6 3-hydroxyisobutyryl-CoA hydrolase化学性质 溶解度: Methanol (Slightly), Water (Slightly) ...
3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency (OMIM 250620) is an autosomal recessive inborn error of valine catabolism characterized by severely delayed psychomotor development, progressive neurodegeneration, recurrent metabolic attacks with intercurrent illness, increased lactic acid, cerebral atrophy, ...
Harris, 3- Hydroxyisobutyryl-CoA hydrolase, Methods Enzymol. 324 (2000) 229-240.Shimomura Y, Murakami T, Nakai N, Huang B, Hawes JW, Harris RA (2000) 3-Hydroxyisobutyryl-CoA hydrolase. In: John R. Sokatch RAH (ed) Methods enzymology. vol Volume 324. Academic Press, pp 229–240...
建议收到该3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial (HIBCH) Antibody产品后,储存温度为-20°C。避免重复冻融 其他 Abbexa总部位于英国剑桥的剑桥科学园,是一家专业的全球抗体供应商和蛋白质供应商,致力于为生命科学、药物开发和生物技术领域的科学家和研究者提供最佳的客户体验和高质量的产品。产品涵盖一抗、...
3‐hydroxy isobutyl‐CoA hydrolase (HIBCH) deficiency is a recently described, rare inborn error of valine metabolism associated with a Leigh syndrome‐like phenotype, neurodegenerative symptoms, and caused by recessive mutations in the HIBCH gene. We report the most severe case to date ...
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, ...
化学名:3-hydroxyisobutyryl-CoA hydrolaseCAS番号.9025-88-1 英語名:3-hydroxyisobutyryl-CoA hydrolaseCBNumberCB61343562MW0MOL FileMol file3-hydroxyisobutyryl-CoA hydrolase物理性質 溶解性 Methanol (Slightly), Water (Slightly) 外見 Solid 色 White to Off-White...
Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown until now. Here, we present a second patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency, who ...