Hyperphenylalaninemia and 7-Pterin Excretion Associated with Mutations in 4a-Hydroxy-tetrahydrobiopterin Dehydratase/DCoH: Analysis of Enzyme Activity in Intestinal Biopsies

• 作者J.E. Ayling; S.W. Bailey; S.R. Boerth; R. Giugliani; C.P. Braegger; B. Thöny; N. Blau
• 卷第70卷
• 期第3期
• 印刷ISSN1096-7192
• 电子ISSN1096-7206
• 文件大小94.62KB
• 发表时间2000
• DOI10.1006/mgme.2000.3016