Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia:: Effect of oral phenylalanine loading

被引：33
作者：
Blau, N
Thöny, B
Renneberg, A
Penzien, JM
Hyland, K
Hoffmann, GF
机构：
[1] Univ Zurich, Childrens Hosp, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland
[2] Childrens Hosp Konigsborn, Unna, Germany
[3] Childrens Hosp Augsburg, Augsburg, Germany
[4] Baylor Univ, Med Ctr, Inst Metab Dis, Dallas, TX USA
[5] Univ Texas, SW Med Ctr, Dept Neurol, Dallas, TX 75235 USA
[6] Univ Marburg, Childrens Hosp, Marburg, Germany
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 03期
关键词：
D O I：
10.1023/A:1005584627797
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：216 / 220
页数：5
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