Results 71 to 80 of about 6,013 (134)

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial

, 2014
BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a rare autosomal dominant disorder caused by NOTCH3 mutations, is characterized by vascular smooth muscle and endothelial cells
Federico A., Pescini F., Parolini M., Frontali M., Orzi F., Dotti M., Valenti R., Mariotti C., Tomasello C., Tavani A., Pelucchi C., Pantoni L., Romano S., Taroni F., Stromillo M. L., Francia A., Parodi O., Campolo J., De Maria R., Inzitari D., Puca E., M. L. Stromillo, M. T. Dotti, E. Puca, A. Federico, FRANCIA, Ada, E. Spagnolo, S. Romano, A. Tavani, N. De Stefano, C. Mariotti, R. Valenti, F. Orzi, R. De Maria, M. Parolini, ROMANO, SILVIA, L. Pantoni, C. Pelucchi, C. Tomasello, J. Campolo, D. Inzitari, M. Frontali, F. Taroni, PUCA, EMANUELE, A. Francia, F. Pescini, V. Sedda, ORZI, Francesco, O. Parodi, Dotti Maria Teresa, Parodi Oberdan, De Maria Renata, Pescini Francesca, Frontali Marina, Orzi Francesco, Parolini Marina, Inzitari Domenico, Tomasello Chiara, Puca Emanuele, Tavani Alessandra, Federico Antonio, Campolo Jonica, Stromillo Maria Laura, Mariotti Caterina, Romano Silvia, Francia Ada, Pelucchi Claudio, Taroni Franco, Pantoni Leonardo, Valenti Raffaella   +69 more
core   +2 more sources

Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels

Background: We assessed the relationship between the cognitive development of children and adolescents with phenylketonuria (PKU) and fluctuations in peripheral phenylalanine (Phe) levels.
Josef Weglage, Lisa Sophie Beckmann, Frank Rutsch, Reinhold Feldmann, Ulrike Och   +4 more
core   +1 more source

Determination of sapropterin dihydrochloride in solid dosage froms by visible spectroscopy

, 2020
Sapropterin Dihidroklorür, fenilalanin hidroksilaz (PAH) enziminin kofaktörü olan tetrahidrobiyopterin (BH4) 'ün sentetik formudur. Fenilketonüri (PKU) olan kişiler için, oral sapropterin dihidroklorür uygulaması, kandaki fenilalanin seviyesini tirozine dönüştürerek azaltır.
openaire   +1 more source

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

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
Bursle, Carolyn, O'Neill, Sara, Morawska, Alina, Atthow, Catherine, Smith, Sally, Adina, Japheth, Mitchell, Amy, Etel, Evren, Spicer, Janette, Inwood, Anita, Elliott, Aoife   +10 more
core   +1 more source

Is sapropterin treatment suitable for all subjects with phenylketonuria?

, 2008
In a Phase I study, 20% of subjects with phenylketonuria (96/485) responded with a = 30% reduction in blood phenylalanine at day 8 of treatment with sapropterin. Subsequently, some of the responders from this study were enrolled in a Phase III study. The
Sheila Doggrell (20011665)
core  

New drugs: Sapropterin dihydrochloride

Australian Prescriber, 2011
openaire   +1 more source

Use of Special Medical Foods with Sapropterin in PKU

, 2019
Background: Phenylketonuria (PKU) is treated with a low phenylalanine (Phe) diet but strict dietary adherence is bur- densome. Sapropterin responsive patients with PKU have an improved Phe tolerance and thereby patients eat more natu- ral protein ...
Yılmaz, Özlem
core  

Real-World Administration Practices of Sapropterin in Paediatric and Adults with Phenylketonuria: Results from a United Kingdom Cross-Sectional Survey. [PDF]

Nutrients
Tosi M, Evans S, Pinto A, Jackson R, Ashmore C, Daly A, Ford S, Buckley S, Skidmore AG, MacDonald A.   +9 more
europepmc   +1 more source

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria. [PDF]

Mol Genet Metab Rep
Lubout CMA, van Wegberg AMJ, van Adrichem-van Dam E, Jansen ME, van Steenis EM, Heiner-Fokkema MR, van Spronsen FJ.   +6 more
europepmc   +1 more source

Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria. [PDF]

FASEB J
Chaturvedi S, Mishra S, Pandya N, Kumar S, Negi R, Singh S, Patel Y, Tiwari S, Patel A, Gupta RK, Mishra SK, Singh A, Tripathi G, Tripathi A, Kumar A, Dubey PK.   +15 more
europepmc   +1 more source