Results 1 to 10 of about 2,204 (208)

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. [PDF]

J Inherit Metab Dis
Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce blood Phe levels and improve Phe
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ, KAMPER investigators.   +12 more
europepmc   +5 more sources

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride [PDF]

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj   +9 more sources

Sapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes Mellitus in Mice [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background Tetrahydrobiopterin is a cofactor of endothelial NO synthase (eNOS), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan), an orally active synthetic form of tetrahydrobiopterin on eNOS ...
Anish Engineer, Tana Saiyin, Xiangru Lu, Andrew S. Kucey, Brad L. Urquhart, Thomas A. Drysdale, Kambiz Norozi, Qingping Feng   +7 more
doaj   +5 more sources

Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report. [PDF]

Nutrients, 2023
Funding Information: M.I.G. has received a Recordati Rare Disease Grant Ed. 2021–2022 from the Portuguese Society of Metabolic Diseases (SPDM) to develop this work in the worth of 3000€. Funding Information: M.I.G.
Gama MI, Daly A, Ashmore C, Evans S, Moreira-Rosário A, Rocha JC, MacDonald A.   +6 more
europepmc   +5 more sources

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria [PDF]

Children
Patients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration.
Ana Jaqueline Nunes, Bianca Fasolo Franceschetto, Lisiane da Gama, Soraia Poloni, Lilia Farret Refosco, Tassia Tonon, Vaneisse Monteiro, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, François Maillot, Ida Vanessa Doederlein Schwartz   +10 more
doaj   +3 more sources

Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria [PDF]

Therapeutic Advances in Endocrinology and Metabolism, 2011
Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). Historically PKU was a common genetic cause of severe learning difficulties and developmental delay, but with the ...
Robin Lachmann
doaj   +6 more sources

Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS) [PDF]

Frontiers in Pharmacology
ObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj   +3 more sources

Efficacy and safety of sapropterin before and during pregnancy:Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries [PDF]

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 636-650, July 2024.
Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy.
, Arnoux, Jean Baptiste, Burlina, Alberto, Burton, Barbara K., Clague, Gillian E., Feillet, François, Ficicioglu, Can, Lagler, Florian B., Lilienstein, Joshua, Lindstrom, Kristin, Longo, Nicola, Muntau, Ania C., Rowell, Richard, Trefz, Friedrich K., van Spronsen, Francjan J.   +14 more
core   +4 more sources

HPLC-Based Analysis of Impurities in Sapropterin Branded and Generic Tablets [PDF]

Pharmaceutics, 2020
This work was aimed at the definition of a chromatographic method able to separate and quantify impurities present in sapropterin-containing drugs during an accelerated stability study. The chromatographic method was applied to the orphan drug Kuvan® and
Emanuela Scudellaro, Luciana Tartaglione, Fabio Varriale, Carmela Dell’Aversano, Orazio Taglialatela-Scafati   +4 more
doaj   +6 more sources

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil [PDF]

JIMD Reports, 2021
Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol.
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny   +8 more
doaj   +4 more sources