Results 161 to 170 of about 8,917 (217)

IT IS NOT TOO LATE TO GET THICK: A DELAYED-ONSET POMPE DISEASE MIMICKING AS HYPERTROPHIC CARDIOMYOPATHY

Glenmore U. Lasam, Maria Kristina Cassandra Lasam   +1 more
openalex   +1 more source

Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease. [PDF]

Pharmacoeconomics
Walton M, Deng NJ, Corbett M, Umemneku-Chikere C, Nevitt SJ, Fulbright H, Tan CY, Lachmann R, Churchill R, Hodgson R.   +9 more
europepmc   +1 more source

An Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease. [PDF]

Adv Ther
Roberts ME, Proskorovsky I, Guyot P, Shukla P, Thibault N, Hamed A, Pulikottil-Jacob R, O'Callaghan L, Pollissard L.   +8 more
europepmc   +1 more source

Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice. [PDF]

Mol Ther Methods Clin Dev
George K, Riley R, Zhou S, Allen E, Smith L, Kistanova E, Kinton S, Guo L, Bangari D, Ismail A, Thummapudi J, Boumezbeur F, Selingue E, Tamarelle D, Capdevila C, Do TM, Lesuisse D, Leksa N, Sardi P, van der Flier A.   +19 more
europepmc   +1 more source

Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (<i>Coturnix japonica</i>). [PDF]

Genes (Basel)
Faruq AA, Matsui T, Maki S, Arakawa N, Watanabe K, Kobayashi Y, Rakib TM, Islam MS, Yabuki A, Yamato O.   +9 more
europepmc   +1 more source

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. [PDF]

J Neurol
Kishnani PS, Díaz-Manera J, Illarioshkin S, van der Ploeg AT, Clemens PR, Day JW, Toscano A, Kushlaf H, Ladha S, Attarian S, Carvalho G, Kostera-Pruszczyk A, Erdem-Özdamar S, Goker-Alpan O, Mozaffar T, Straub V, Roberts M, Haack KA, Huynh-Ba O, Tammireddy S, Periquet M, Thibault N, Zhou T, Dimachkie MM, Schoser B, COMET Investigator Group.   +25 more
europepmc   +1 more source

Lysosomal impairments in Pompe disease are associated with altered T cell homeostasis and intrinsic metabolic dysregulation

Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Barcelos ECS, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, Wittenberghe Lv, Laforêt P, Gross D, Ronzitti G, Fallarino F, Mingozzi F.   +17 more
europepmc   +1 more source

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review. [PDF]

Cureus
Nunes Campos L, Davila Rivera I, Ibañez Alegre DM, Del Puerto González FN, Garrido San Juan M, Fernandez Zelcer F, Borgobello D, Gerk A, Sosa LF, Miretti MM, Stegmann J, Argüelles CF.   +11 more
europepmc   +1 more source

Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease. [PDF]

Ann Transl Med
Koch RL, Cocanougher BT, Lim JA, Raben N, Kishnani PS.   +4 more
europepmc   +1 more source