Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

被引：31

作者：

Weglage, J ^{[1
]}

Grenzebach, M ^{[1
]}

Teeffelen-Heithoff, AV ^{[1
]}

Marquardt, T ^{[1
]}

Feldmann, R ^{[1
]}

Denecke, J ^{[1
]}

Gödde, D ^{[1
]}

Koch, HG ^{[1
]}

机构：

[1] Univ Hosp Munster, Dept Pediat, D-48129 Munster, Germany

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2002年 / 25卷 / 04期

关键词：

D O I：

10.1023/A:1016514727870

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).

引用

页码：321 / 322

页数：2

共 3 条

[1] Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency [J].

Kure, S ;

Hou, DC ;

Ohura, T ;

Iwamoto, H ;

Suzuki, S ;

Sugiyama, N ;

Sakamoto, O ;

Fujii, K ;

Matsubara, Y ;

Narisawa, K .

JOURNAL OF PEDIATRICS, 1999, 135 (03) :375-378

[2] Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype [J].

Lindner, M ;

Haas, D ;

Zschocke, J ;

Burgard, P .

MOLECULAR GENETICS AND METABOLISM, 2001, 73 (01) :104-106

[3] Successful treatment of phenylketonuria with tetrahydrobiopterin [J].

Trefz, FK ;

Aulela-Scholz, C ;

Blau, N .

EUROPEAN JOURNAL OF PEDIATRICS, 2001, 160 (05) :315-315

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