Results 131 to 140 of about 2,204 (208)

Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints [PDF]

, 2015

core   +1 more source

Increasing Tetrahydrobiopterin in Cardiomyocytes Adversely Affects Cardiac Redox State and Mitochondrial Function Independently of Changes in NO Production [PDF]

, 2016
Tetrahydrobiopterin (BH4) represents a potential strategy for the treatment of cardiac remodeling, fibrosis and/or diastolic dysfunction. The effects of oral treatment with BH4 (Sapropterin™ or Kuvan™) are however dose-limiting with high dose negating ...
Bennett, Brian, Ionova, Irina A., Pieper, Galen M., Sethumadhavan, Savitha, Vasquez-Vivar, Jeannette, Whitsett, Jennifer   +5 more
core   +1 more source

Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta‐analysis of randomized controlled trials [PDF]

, 2019
Jinghan Qu, Ting Yang, Ente Wang, Min Li, Chaoyang Chen, Lingyun Ma, Ying Zhou, Yimin Cui   +7 more
openalex   +1 more source

Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-Analysis. [PDF]

Nutrients, 2023
Pinto A, Ilgaz F, Evans S, van Dam E, Rocha JC, Karabulut E, Hickson M, Daly A, MacDonald A.   +8 more
europepmc   +1 more source

Flexibility in assessment of rare disease technologies via NICE's single technology appraisal route: a thematic analysis. [PDF]

J Comp Eff Res, 2023
Hale G, Morris J, Barker-Yip J.
europepmc   +1 more source

Lessons learned from 5 years of pegvaliase in US clinics: A case series. [PDF]

Mol Genet Metab Rep
Cooney E, Ammous Z, Bender T, Clague GE, Clifford M, Crutcher A, Davis-Keppen L, Havens K, Lah M, Sacharow S, Sanchez-Valle A, Vucko E, Wardley B, Wessenberg L, Andersson HC.   +14 more
europepmc   +1 more source

New drugs: Sapropterin dihydrochloride [PDF]

, 2011
Michael McCullough
openalex   +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

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU [PDF]

, 2018
Blau, Nenad
core  

Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed. [PDF]

Arch Razi Inst, 2023
Thoalnoon OA, Kareem AA, Hammoodi HZ.
europepmc   +1 more source