Genotype-phenotype correlation in dihydropteridine reductase deficiency

被引：7

作者：

de Sanctis, L

Alliaudi, C

Spada, M

Farrugia, R

Cerone, R

Biasucci, G

Meli, C

Zammarchi, E

Coskun, T

Blau, N

Ponzone, A

Dianzani, I

机构：

[1] Univ Turin, Dept Pediat Sci, I-10124 Turin, Italy

[2] Univ Malta, Dept Pathol, Msida, Malta

[3] Univ Genoa, G Gaslini Inst, Dept Pediat, Genoa, Italy

[4] Osped Civile Piacenza, UO Pediat, Piacenza, Italy

[5] Univ Catania Policlin, Dept Pediat, Catania, Italy

[6] Univ Florence, Dept Pediat, I-50121 Florence, Italy

[7] Childrens Hosp, Ankara, Turkey

[8] Univ Zurich, Childrens Hosp, Div Clin Chem, Zurich, Switzerland

[9] Eastern Piedmont Univ, Dept Med Sci, Novara, Italy

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2000年 / 23卷 / 04期

关键词：

D O I：

10.1023/A:1005662710891

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：333 / 337

页数：5

共 15 条

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2-C

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[8] DIFFERENTIAL-DIAGNOSIS OF HYPERPHENYLALANINEMIA BY A COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST [J].

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[10]

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