Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Item
http://www.wikidata.org/entity/Q43696615
Sapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experienceTetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
P2860

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Item
http://www.wikidata.org/entity/Q43696615
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@en
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@nl
type
label
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@en
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@nl
prefLabel
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@en
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
@en
P2093
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698