Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
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Nutritional Management of PhenylketonuriaNew Strategies for the Treatment of Phenylketonuria (PKU)Phenylketonuria: translating research into novel therapiesNutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinTetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in IranInfluence 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.Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuriaIntroduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.Up to date knowledge on different treatment strategies for phenylketonuria.Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant.Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuriaSapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria.Outcomes of phenylketonuria with relevance to follow-upChaperone-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?Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancyTetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.Antioxidant treatment strategies for hyperphenylalaninemia.Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.Molecular genetics and diagnosis of phenylketonuria: state of the art.Clinical therapeutics 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.Sapropterin treatment does not enhance the health-related quality of life of patients with phenylketonuria and their parents.Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
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Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 February 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
@en
Optimizing the use of sapropterin
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type
label
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
@en
Optimizing the use of sapropterin
@nl
prefLabel
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
@en
Optimizing the use of sapropterin
@nl
P2093
P1476
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria
@en
P2093
Amaya Bélanger-Quintana
Anita MacDonald
Francjan J van Spronsen
François Feillet
Friedrich K Trefz
Marcello Giovannini
Mübeccel Demirkol
P304
P356
10.1016/J.YMGME.2009.01.002
P50
P577
2009-02-08T00:00:00Z