High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
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Sapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaPhenylketonuria: a review of current and future treatmentsPhenylketonuria: translating research into novel therapiesUtility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.Novel pharmacological chaperones that correct phenylketonuria in mice.Phenylalanine hydroxylase deficiency.The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaLong-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experienceUp to date knowledge on different treatment strategies for phenylketonuria.Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?Sapropterin: a new therapeutic agent for phenylketonuria.Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life.Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Molecular genetics and diagnosis of phenylketonuria: state of the art.The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.The complete European guidelines on phenylketonuria: diagnosis and treatment.Tetrahydrobiopterin control in phenylketonuria.Biopterin responsive phenylalanine hydroxylase deficiency.In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.Descriptive and hedonic analyses of low-Phe food formulations containing corn (Zea mays) seedling roots: toward development of a dietary supplement for individuals with phenylketonuria.Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
P2860
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P2860
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@en
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@nl
type
label
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@en
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@nl
prefLabel
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@en
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@nl
P1476
High frequency of tetrahydrobi ...... ts observed from 1988 to 2002.
@en
P2093
Caroline Bernegger
P304
P356
10.1016/S1096-7192(02)00171-3
P50
P577
2002-12-01T00:00:00Z