Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
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Cytokine effects on the basal ganglia and dopamine function: the subcortical source of inflammatory malaiseUtility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria.Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.Phenylalanine hydroxylase deficiency.Up to date knowledge on different treatment strategies for phenylketonuria.Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?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 responsivenessTetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Phenylalanine hydroxylase deficiency: diagnosis and management guideline.Molecular genetics and diagnosis of phenylketonuria: state of the art.Clinical utility gene card for: Phenylketonuria.Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.The complete European guidelines on phenylketonuria: diagnosis and treatment.Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
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P2860
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@en
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@nl
type
label
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@en
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@nl
prefLabel
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@en
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@nl
P2093
P1476
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.
@en
P2093
D Scheible
G Frauendienst-Egger
P2888
P356
10.1007/S10545-008-0940-8
P577
2008-10-30T00:00:00Z