Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Item
http://www.wikidata.org/entity/Q33643744
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsivenessPretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.Molecular genetics and diagnosis of phenylketonuria: state of the art.Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)
P2860

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Item
http://www.wikidata.org/entity/Q33643744
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Utility of phenylalanine hydro ...... patients with phenylketonuria.
@ast
Utility of phenylalanine hydro ...... patients with phenylketonuria.
@en
type
label
Utility of phenylalanine hydro ...... patients with phenylketonuria.
@ast
Utility of phenylalanine hydro ...... patients with phenylketonuria.
@en
prefLabel
Utility of phenylalanine hydro ...... patients with phenylketonuria.
@ast
Utility of phenylalanine hydro ...... patients with phenylketonuria.
@en
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Utility of phenylalanine hydro ...... patients with phenylketonuria.
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P2093
P2860
P304
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P356
10.1016/J.YMGME.2012.07.008
P433
P478
P577
P698
P921
P932