The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
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Sapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaPhenylketonuria: a review of current and future treatmentsUtility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.Newborn screening.New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.Phenylalanine hydroxylase deficiency.Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaIntroduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.Autophagy induction by tetrahydrobiopterin deficiencyConvert your favorite protein modeling program into a mutation predictor: "MODICT"Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria.Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study.Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.Oxidative stress in renal dysfunction: mechanisms, clinical sequelae and therapeutic options.Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.Clinical therapeutics for phenylketonuria.Recognition and diagnostic approach to acute metabolic disorders in the neonatal period.The discovery of medicines for rare diseasesAnalysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.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.Phenylketonuria: Our Experience in Nine Years at a Tertiary-level Referral Institute.Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish.
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P2860
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@ast
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@en
type
label
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@ast
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@en
prefLabel
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@ast
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@en
P1476
The metabolic and molecular ba ...... lanine hydroxylase deficiency.
@en
P2093
Heidi Erlandsen
Nenad Blau
P304
P356
10.1016/J.YMGME.2004.03.006
P577
2004-06-01T00:00:00Z