Results 131 to 140 of about 1,551 (187)

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

, 2013
Stefanie Keil, Karen Anjema, Francjan J. van Spronsen, Nilo Lambruschini, A Burlina, Amaya Bélanger‐Quintana, María L. Couce, François Feillet, R. Cerone, Amelie S. Lotz-Havla, Ania C. Muntau, Annet M. Bosch, Concetta Meli, Thierry Billette de Villemeur, Ilse Kern, Enrica Riva, Marcello Giovannini, Léna Damaj, Vincenzo Leuzzi, Nenad Blau   +19 more
openalex   +2 more sources

Formulation and Optimization of Immediate Release Tablet of Sapropterin Dihydrochloride by Dry Granulation Process

Tapan Kumar Jena, Rakesh Kumar Jat
openalex   +2 more sources

Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria. [PDF]

Orphanet J Rare Dis
Schoen MS, Nath SV, Singh RH.
europepmc   +1 more source

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

, 2013
Sarah Leuders, Eva Wolfgart, Torsten Ott, Marcel du Moulin, A. van Teeffelen‐Heithoff, Lydia Vogelpohl, Ulrike Och, Thorsten Marquardt, J. Weglage, Reinhold Feldmann, Frank Rutsch   +10 more
openalex   +2 more sources

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified. [PDF]

Int J Neonatal Screen
Wong TS, Wong SSN, Kwok AMK, Wu H, Law HF, Lam S, Yeung MCW, Chan TCH, Leung G, Mak CM, Belaramani KM, Fung CW.   +11 more
europepmc   +1 more source

Toxicity spectrum of pegvaliase: A pharmacovigilance analysis using the FAERS database. [PDF]

Orphanet J Rare Dis
Xu L, Mao K, Zhong S, Sun H, Zheng H, Fu Z.   +5 more
europepmc   +1 more source

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial

F. K. Trefz, Anita Inwood, Renata Tyčová, Suresh Vijay, Olivia Fjellbirkeland, Francjan van Spronsen, Eva Venegas‐Moreno, Laura Guilder, Alberto Burlina, Heidi Peters, Murray A. Potter, Urh Groselj, A. Chakrapani, K. Dokoupil, François Maillot, Frank Rutsch, Jean-Baptiste Arnoux, Michel Tchan, Kim M. Ingalls, Zhenming Zhao, Catalina Hughes, Neil Smith, Ania C. Muntau   +22 more
openalex   +1 more source

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]

François Feillet, Can Fıçıcıoğlu, Florian B. Lagler, Nicola Longo, Ania C. Muntau, Alberto Burlina, Friedrich K. Trefz, Francjan J. van Spronsen, Jean‐Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E. Clague, Richard Rowell, Barbara K. Burton, the KAMPER and PKUDOS investigators   +14 more
openalex   +1 more source

Oral sapropterin augments reflex vasoconstriction in aged human skin through noradrenergic mechanisms

, 2013
Anna E. Stanhewicz, Lacy M. Alexander, W. Larry Kenney   +2 more
openalex   +1 more source

Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels. [PDF]

Int J Environ Res Public Health
Feldmann R, Och U, Beckmann LS, Weglage J, Rutsch F.   +4 more
europepmc   +1 more source