Web摘 要: 目的探讨四氢生物蝶呤 (tetrahydrobiopterin,BH_4)反应性苯丙氨酸羟化酶 (phenylalanine hydroxylase,PAH)缺乏症临床表型和基因型的关系。. 方法38例高苯丙氨酸血症 (hyperphenylalaninemia,HPA)患儿均进行口服BH_4负荷试验 (20mg/kg)或Phe-BH_4联合负荷试验,同时进行尿蝶呤谱分析 ... WebPhenylketonuria is a disorder of amino acid metabolism that causes a clinical syndrome of intellectual disability with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxylase activity. Diagnosis is by detecting high phenylalanine levels and normal or low tyrosine ...
Phenylalanine hydroxylase deficiency - PubMed
Web中文翻譯 手機版. n. 【化學】苯基丙胺酸。. "benzyloxycarbonyl phenylalanine" 中文翻譯 : 下氧基碳酰苯丙氨酸. "d-phenylalanine" 中文翻譯 : 苯丙氨酸. "dimethyl-phenylalanine" 中文翻譯 : 二甲基-苯丙氨酸. "hydroxymethyl phenylalanine" 中文翻譯 : 羥甲基苯丙氨酸. "isopropyl-phenylalanine ... Web"lysylprotocollagen hydroxylase" 中文翻譯: 賴氨酰本膠原羥化酶 "melilotate hydroxylase" 中文翻譯: 黃木樨酸羥化酶 "methylsterol hydroxylase" 中文翻譯: 甲基固醇羥化酶 "phenylalanine hydroxylase" 中文翻譯: 苯丙氨酸羥化酶 "progesterone hydroxylase" 中文翻譯: 黃體酮羥化酶 ihg rewards toll free number
Phenylalanine Hydroxylase - an overview ScienceDirect Topics
WebPhenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of … WebPhenylalanine hydroxylase deficiency and most of the cofactor defects are inherited by autosomal recessive inheritance. Affected individuals have two pathogenic variants, one inherited from each parent. Due to parents being carriers, there is a 25% recurrence risk, and in siblings who are not affected, there is a 2/3 risk for being a carrier. ... WebMar 4, 2013 · Abstract Mammalian phenylalanine hydroxylase (PAH) catalyzes the rate-limiting step in the phenylalanine catabolism, consuming about 75% of the phenylalanine input from the diet and protein catabol... IUBMB Life is the flagship journal of the International Union of Biochemistry and Molecular Biology and is devoted to the rapid … ihg rewards phone number for hotels