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Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Abstract：

:Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Lindner M,Haas D,Mayatepek E,Zschocke J,Burgard P

doi

10.1006/mgme.2001.3168

subject

Has Abstract

pub_date

2001-05-01 00:00:00

pages

104-6

issue

1

eissn

1096-7192

issn

1096-7206

pii

S1096719201931683

journal_volume

73

pub_type

杂志文章

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