Results 81 to 90 of about 676 (154)

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +1 more source

Inconsistent approaches of the G-BA regarding acceptance of primary study endpoints as being relevant to patients - an analysis of three disease areas: oncological, metabolic, and infectious diseases [PDF]

, 2016

core   +1 more source

Síndrome de Morquio, uma doença do tipo IV das mucopolissacaridoses: uma revisão integrativa [PDF]

Historicamente, a denominada Síndrome de Morquio foi descoberta por um pediatra uruguaio em 1929 e é classificada como doença do tipo IV, pertencente ao grupo das mucopolissacaridoses (MPS).
Abreu, Marilda Aparecida Milanez Morgado de, Galves, Taiana Cáira Barbosa, Ott, Nicole Raissa, Pereira, Priscilla Aparecida Tartari, Torrieri, Érico, Zambrin, Gabrielle Coelho   +5 more
core   +1 more source

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa. [PDF]

JIMD Rep, 2018
Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ.   +13 more
europepmc   +1 more source

Letter to the Editor - Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements? [PDF]

J Comp Eff Res
Falchetto R, Barman-Aksözen J.
europepmc   +1 more source

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
europepmc   +1 more source

The value-for-money assessment and funding arrangements for high-priced drugs in an era of uncertainty: a comparative analysis of national health technology assessment agencies in South Korea, England, Australia, and Canada. [PDF]

BMC Health Serv Res
Hong J, Bae EY, Cha S, Lee J.
europepmc   +1 more source

Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases. [PDF]

Sci Rep
Alblooshi A, Zaabi NA, Albadi G, Al-Jasmi FA.   +3 more
europepmc   +1 more source

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +1 more source

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia. [PDF]

Orphanet J Rare Dis
AlSayed M, Arafa D, Al-Khawajha H, Afqi M, Al-Sanna'a N, Sunbul R, Faden M.   +6 more
europepmc   +1 more source