Results 21 to 30 of about 2,156 (206)

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
Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy.
F. Feillet, C. Ficicioglu, F. Lagler, N. Longo, A. Muntau, A. Burlina, F. Trefz, F. V. van Spronsen, J. Arnoux, K. Lindstrom, Joshua Lilienstein, Gillian E. Clague, R. Rowell, Barbara K. Burton   +13 more
semanticscholar   +2 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
Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported.
Maria Inês Gama, A. Daly, C. Ashmore, S. Evans, A. Moreira-Rosário, J. C. Rocha, A. Macdonald   +6 more
semanticscholar   +2 more sources

Effects of commencing sapropterin therapy on quality of life for children with phenylketonuria and their families: a qualitative interview study

Australian Journal of Advanced Nursing
Background: Prior to 2018, sapropterin hydrochloride (BH4, Kuvan®) had not been used in Queensland, Australia, to treat sapropterin-responsive phenylketonuria (PKU). This gave our centre at the Queensland Children’s Hospital the opportunity to assess the
Amy E. Mitchell, Alina Morawska, E. Etel, J. Adina, Catherine Atthow, Sally Smith, Janette Spicer, C. Bursle, Aoife Elliott, Sara O'Neill, A. Inwood   +10 more
semanticscholar   +2 more sources

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]

Journal of Inherited Metabolic Disease
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
F. Feillet, J. Arnoux, María Bueno Delgado, A. Burlina, Brigitte Chabrol, E. Kucuksayrac, F. Lagler, A. Muntau, David Olsson, Sabrina Paci, F. Rutsch, F. V. van Spronsen   +11 more
semanticscholar   +2 more sources

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four [PDF]

The Turkish Journal of Pediatrics, 2015
Sapropterin enhances phenylalanine hydroxylase activity, thus lowering blood phenylalanine (Phe) concentration while increasing protein tolerance in sapropterin-responsive patients.
Özlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, R Köksal Özgül, Didem Yücel, Burcu Hişmi, Ayşegül Tokatlı, Ali Dursun, H Serap Sivri   +8 more
doaj   +1 more source

Sapropterin for phenylketonuria: A Japanese post‐marketing surveillance study [PDF]

Pediatrics International, 2022
AbstractBackgroundThe aim of this study was to assess the long‐term safety and efficacy of sapropterin in a real‐world setting in Japanese patients with tetrahydrobiopterin (BH4)‐responsive phenylketonuria.MethodsThis post‐marketing surveillance study enrolled all of the patients in Japan with confirmed BH4‐responsive PKU who were administrated ...
Mina Tamura, Shizuka Seki, Yasuyuki Kakurai, Shuichi Chikada, Kento Wada   +4 more
openaire   +3 more sources

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.

Molecular Genetics and Metabolism, 2023
BACKGROUND Phenylalanine (Phe)-restricted diet is associated with lower quality of life for patients with phenylketonuria (PKU), and a concern for caregivers of recently-diagnosed infants.
K. Çıkı, Y. Yıldız, A. B. Kahraman, R. Özgül, T. Coşkun, A. Dursun, A. Tokatlı, Serap Sivri   +7 more
semanticscholar   +2 more sources

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

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   +2 more sources

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

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   +2 more sources

Sepiapterin: From sapropterin to next-generation therapy

Molecular Genetics and Metabolism
Sepiapterin is a naturally occurring pteridine and BH4 precursor that links classic pterin chemistry to tetrahydrobiopterin biology. Tetrahydrobiopterin (BH4; sapropterin) is an essential redox-active cofactor for phenylalanine hydroxylase (PAH), the aromatic amino acid hydroxylases, and nitric oxide synthases, whereas 7,8-dihydrobiopterin (BH2 ...
N. Blau
openaire   +3 more sources