Results 141 to 150 of about 2,156 (206)
Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study. [PDF]
NutrientsRovelli V +6 more
europepmc +1 more source
Fe(II) with Tris(1-pyrazolyl)methane Complex Increases Thermal Stability In Vitro and Activity In Vivo of the Mutant 447R Form of Mouse Tryptophan Hydroxylase 2. [PDF]
Int J Mol SciTerentieva EI +7 more
europepmc +1 more source
Recommendations for the Use of Sapropterin in Phenylketonuria [PDF]
Molecular Genetics and Metabolism, 2012 Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for
Elaina Jurecki, Jane Gillis, Amy Pender
exaly +4 more sources
Use of Sapropterin in the Management of Phenylketonuria: Seven Case Reports
Molecular Genetics and Metabolism, 2013 Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering ...
Júlio César Rocha +2 more
exaly +5 more sources
Sapropterin Dihydrochloride for Phenylketonuria and Tetrahydrobiopterin Deficiency
Expert Review of Endocrinology and Metabolism, 2010 Sapropterin dihydrochloride is the first registered synthetic form of the naturally occurring cofactor and cosubstrate, tetrahydrobiopterin (BH4). It is essential for the conversion of phenylalanine (Phe) by phenylalanine-4-hydroxylase (PAH) to tyrosine.
Nenad Blau
exaly +4 more sources
International Best Practice for the Evaluation of Responsiveness to Sapropterin Dihydrochloride in Patients With Phenylketonuria [PDF]
Molecular Genetics and Metabolism, 2019 Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe) concentration can have detrimental effects on brain development and function, international ...
Javier de las Heras +2 more
exaly +3 more sources