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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

机译：欧洲对苯丙氨酸羟化酶缺乏症的多中心研究：105个突变的分类以及基于基因型的代谢表型预测的通用系统。

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Guldberg P; Rey F; Zschocke J; Romano V; François B; Michiels L; Ullrich K; Hoffmann G F; Burgard P; Schmidt H; Meli C; Riva E; Dianzani I; Ponzone A; Rey J; Güttler F;
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1. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. [J] . Jürat? Kasnauskien?, Loreta Cimbalistien?, Vaidutis Ku?inskas Medical science monitor : . 2003,第5期

机译：验证基于PAH基因型的代谢性苯丙氨酸羟化酶缺乏症表型的预测：来自立陶宛的PKU / MHP患者的调查。
2. Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness [J] . PolakE., FicekA., RadvanszkyJ., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

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3. Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness [J] . PolakE., FicekA., RadvanszkyJ., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

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6. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. [O] . P Guldberg, F Rey, J Zschocke, 1998

机译：欧洲对苯丙氨酸羟化酶缺乏症的多中心研究：105个突变的分类以及基于基因型的代谢表型预测的通用系统。
7. A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype [O] . Guldberg Per, Rey Françoise, Zschocke Johannes, 1998

机译：欧洲对苯丙氨酸羟化酶缺乏症的多中心研究：105个突变的分类和基于基因型的代谢表型预测的通用系统。

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

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