Results 111 to 120 of about 1,989 (180)

Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration. [PDF]

Orphanet J Rare Dis
McGrattan KE, Mohr AH, Miles A, Allen J, Ochura J, Hernandez K, Walsh K, Rao V, Stevens M, McGhee H, Nichols K, Turksi ME, Spoden A, Wilson I, Coker M, Leon-Astudillo C, Smith LS, Brandsema J, Farah H, Welc J, Levy D, Clements M, Duong T, Young SD, Schenck G, Richardson R, Karachunski P, Brown A, Brown A, Castro D, Darras BT, Graham RJ.   +31 more
europepmc   +1 more source

Protocolo de medición del nivel funcional de usuarios con atrofia muscular tipo II y III sometidos a tratamiento de Spinraza®

Tesis de (Magíster en Neurorrehabilitación)La Atrofia Muscular Espinal, es una enfermedad de causa genética autosómica recesiva que afecta principalmente a las neuronas motoras, específicamente por mutaciones en el gen de Supervivencia de Moto Neurona 1 ...
Hernández Lobos, Paula., Torres Barrientos, Camila, Stuardo Domínguez, Leslie   +2 more
core  

Costs of Treating Onasemnogene Abeparvovec-Xioi-Induced Liver Injury. [PDF]

Pharmacol Res Perspect
Belančić A, Raičević B, Stević I, Vitezić D, Janković SM.   +4 more
europepmc   +1 more source

Zolgensma e Atrofia Muscular Espinhal: evidências, incertezas e impacto orçamentário

Primeiro Congresso da REBRATS, 2019
Kennedy Crepalde Ribeiro, Isabella Zuppo, Natália Dias Brandão, Nelio Gomes Ribeiro Junior, Pâmela Santos Azevedo, Ludmila Peres Gargano, Augusto Afonso Guerra Junior, FRANCISCO ACURCIO, Juliana Alvares-Teodoro   +8 more
openaire   +2 more sources

Génterápiák bemutatása farmakológiai szemmel

A génterápia a modern orvoslás egyik legintenzívebben fejlődő és legígéretesebb területe, amely lehetőséget kínál mind genetikai, mind nem genetikai betegségek oki kezelésére.
Bódi, Ádám
core  

Safety of Adeno-Associated Viral Vectors in Gene Therapy: Mechanisms of Toxicity, Clinical Risks, and Strategies for Their Minimization. [PDF]

Int J Mol Sci
Tsaregorodtseva TS, Radyukhina MA, Ayupova AI, Solovyeva VV, Sufianov AA, Sufianova GZ, Rizvanov AA.   +6 more
europepmc   +1 more source

How social pharmaceutical innovations are addressing problems of availability, accessibility and affordability of drugs for rare diseases. [PDF]

Orphanet J Rare Dis
Douglas CMW, Kleinhout-Vliek T, Hagendijk R, Rabeharisoa V, Boon W, Aith F, Oliveira CC, Grunebaum S, Moors E.   +8 more
europepmc   +1 more source

Joint Scientific Consultation Eligibility Criterion: Hubris or Naïveté. [PDF]

J Mark Access Health Policy
Toumi M, Falissard B, Boyer L, Auquier P.   +3 more
europepmc   +1 more source

Onasemnogene Abeparvovec (Zolgensma) Decreases Ventilator/Bi-Pap Support in 3 Infants with SMA 1

Annals of Case Reports, 2021
openaire   +1 more source

Course of joint range of motion in children with spinal muscular atrophy receiving disease-modifying treatment. [PDF]

Orphanet J Rare Dis
Oude Lansink ILB, Gorter JW, van der Pol WL, Vd Woude DR, Scheiberlich PJ, van Eijk RPA, Bartels B, Beelen A.   +7 more
europepmc   +1 more source