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

相关论文

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