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A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4)
Gynecological Endocrinology, 2014 Maria L Couce, Fernando Andrade
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Sapropterin dihydrochloride: A new drug and a new concept in the management of phenylketonuria
Drugs of Today, 2010Phenylketonuria (PKU) is characterized by persistent hyperphenylalaninemia, due to mutations in the gene coding for phenylalanine hydroxylase (PAH). If untreated, patients develop profound mental retardation. The principal treatment for PKU is lifelong dietary phenylalanine restriction, requiring the administration of special phenylalanine-free protein
F K, Trefz, A, Belanger-Quintana
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Clinical Therapeutics, 2010
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by hyperphenylalaninemia in association with neurocognitive and neuromotor impairment. Sapropterin dihydrochloride (hereafter referred to as sapropterin) administered orally as dissolved tablets is approved by the US Food and Drug Administration for hyperphenylalaninemia ...
Donald G Musson
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Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by hyperphenylalaninemia in association with neurocognitive and neuromotor impairment. Sapropterin dihydrochloride (hereafter referred to as sapropterin) administered orally as dissolved tablets is approved by the US Food and Drug Administration for hyperphenylalaninemia ...
Donald G Musson
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Molecular Genetics and Metabolism, 2012
Sapropterin dihydrochloride, a synthetic tetrahydrobiopterin (BH4), works as a chaperone of phenylalanine hydroxylase (PAH) in phenylketonuria (PKU) to facilitate and stabilize folding of PAH into its most active conformation. No standard pharmacogenetic tests exist to identify responsive genotypes.
Brenda Diethelm-Okita
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Sapropterin dihydrochloride, a synthetic tetrahydrobiopterin (BH4), works as a chaperone of phenylalanine hydroxylase (PAH) in phenylketonuria (PKU) to facilitate and stabilize folding of PAH into its most active conformation. No standard pharmacogenetic tests exist to identify responsive genotypes.
Brenda Diethelm-Okita
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Research and Reports in Endocrine Disorders, 2012 Hilary Vernon1,21McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 2Kennedy Krieger Institute, Baltimore, MD, USAAbstract: Phenylketonuria (PKU) is an inborn error of metabolism caused by a defect in the enzyme phenylalanine hydroxylase, which is responsible for converting phenylalanine to tyrosine. Untreated, this disorder will
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Molecular Genetics and Metabolism, 2012
To understand current patient selection, dosing, and response criteria used for sapropterin dihydrochloride (sapropterin, Kuvan®) to treat phenylketonuria (PKU).Results of a 2010 survey of twenty-nine academic medical centers are reported to describe practice patterns in comparison to results of a survey done in 2008 and to what is reported in the ...
Patricia Gordon +2 more
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To understand current patient selection, dosing, and response criteria used for sapropterin dihydrochloride (sapropterin, Kuvan®) to treat phenylketonuria (PKU).Results of a 2010 survey of twenty-nine academic medical centers are reported to describe practice patterns in comparison to results of a survey done in 2008 and to what is reported in the ...
Patricia Gordon +2 more
exaly +3 more sources
Molecular Genetics and Metabolism, 2011
Phenylketonuria (PKU) results from impaired breakdown of phenylalanine (Phe) due to deficient phenylalanine hydroxylase (PAH) activity. Sapropterin dihydrochloride (sapropterin, Kuvan®) is the only US- and EU-approved pharmaceutical version of naturally occurring 6R-BH(4), the cofactor required for PAH activity.
Barbara K, Burton +10 more
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Phenylketonuria (PKU) results from impaired breakdown of phenylalanine (Phe) due to deficient phenylalanine hydroxylase (PAH) activity. Sapropterin dihydrochloride (sapropterin, Kuvan®) is the only US- and EU-approved pharmaceutical version of naturally occurring 6R-BH(4), the cofactor required for PAH activity.
Barbara K, Burton +10 more
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ICAN: Infant, Child, & Adolescent Nutrition, 2009
Sapropterin is approved to reduce blood phenylalanine levels in patients with hyperphenylalaninemia due to tetrahydrobiopterin-responsive phenylketonuria. The current Food and Drug Administration—approved labeling states that sapropterin tablets should be dissolved in 4 to 8 oz of water or apple juice; however, numerous requests for information ...
Steven Striepeke +4 more
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Sapropterin is approved to reduce blood phenylalanine levels in patients with hyperphenylalaninemia due to tetrahydrobiopterin-responsive phenylketonuria. The current Food and Drug Administration—approved labeling states that sapropterin tablets should be dissolved in 4 to 8 oz of water or apple juice; however, numerous requests for information ...
Steven Striepeke +4 more
openaire +1 more source
Expert Opinion on Investigational Drugs, 2008
Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) is being introduced in the US for treatment of phenylketonuria (PKU). This compound has been in use in Europe to treat mild forms of PKU. Tetrahydrobiopterin is the cofactor in the hydroxylation reaction of the three aromatic amino acids phenylalanine, tyrosine and tryptophan.
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Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) is being introduced in the US for treatment of phenylketonuria (PKU). This compound has been in use in Europe to treat mild forms of PKU. Tetrahydrobiopterin is the cofactor in the hydroxylation reaction of the three aromatic amino acids phenylalanine, tyrosine and tryptophan.
openaire +2 more sources
Sapropterin Dihydrochloride < Prop INNM >
Drugs of the Future, 1991J. Prous, J. Castañer
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