Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients
作者： J. Weglage , M. Grenzebach , A. v. Teeffelen-Heithoff , T. Marquardt , R. Feldmann
关键词: Large series 、 Tetrahydrobiopterin 、 Internal medicine 、 Medicine 、 Body weight 、 Endocrinology 、 Phenylalanine 、 Genetics(clinical) 、 Genetics
摘要: In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 showed (temporary) decrease serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).
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sci-hub.se 参考文章(3)
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