Results 91 to 100 of about 21,517,347 (239)

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Molecular Genetics and Metabolism, 2016
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study.
C. Hendriksz, R. Parini, M. AlSayed, J. Raiman, R. Giugliani, Martha L Solano Villarreal, John J. Mitchell, B. Burton, N. Guelbert, F. Stewart, D. Hughes, K. Berger, P. Slasor, Robert A. Matousek, E. Jurecki, A. Shaywitz, P. Harmatz   +16 more
semanticscholar   +1 more source

A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy

Epilepsia Open, Volume 9, Issue 1, Page 424-431, February 2024.
Abstract Focal cortical dysplasia (FCD) represents the most common cause of drug‐resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug‐resistant epilepsy evolving in super‐refractory status ...
Barbora Straka, Miroslav Koblížek, Barbora Splítková, Radka Valkovičová, Lenka Krsková, Markéta Kalinová, Markéta Vlčková, Josef Zámečník, Petra Laššuthová, Lucie Sedláčková, David Staněk, Alice Maulisová, Michal Tichý, Martin Kynčl, Pavel Kršek   +14 more
wiley   +1 more source

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

, 2022
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome.
Jain, Angita, Ahuja, Abhimanyu S., Cheema, Anvir, Abbott, Jessica, Bruno, Katelyn A., Atwal, Paldeep S., Selvam, Pavalan, Caulfield, Thomas, Forghani, Irman, Atwal, Herjot   +9 more
core   +1 more source

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

Molecular Genetics and Metabolism Reports, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions.
G. Pintos-Morell, J. Blasco-Alonso, M. Couce, L. Gutiérrez-Solana, E. Guillén-Navarro, M. O’Callaghan, M. del Toro   +6 more
semanticscholar   +1 more source

Fetal gene therapy

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 192-210, January 2024.
Abstract Fetal gene therapy was first proposed toward the end of the 1990s when the field of gene therapy was, to quote the Gartner hype cycle, at its “peak of inflated expectations.” Gene therapy was still an immature field but over the ensuing decade, it matured and is now a clinical and market reality. The trajectory of treatment for several genetic
Simon N. Waddington, William H. Peranteau, Ahad A. Rahim, Ashley K. Boyle, Manju A. Kurian, Paul Gissen, Jerry K. Y. Chan, Anna L. David   +7 more
wiley   +1 more source

Manejo exitoso de vía aérea con dispositivo King Visión en un niño con síndrome de Morquio: reporte de caso.

, 2017
Morquio syndrome also called type IV mucopolysaccharidosis, is a condition produced by lysosomal deposit. Morquio syndrome have several implications in the airway management because is characterized by C1-C2, instability, short height, cervical spine ...
Zamudio, Mario Andrés, Guerra, Lina Maritza, Salazar, Jonny Arbey   +2 more
core  

SÍNDROME DE MORQUIO (MUCOPOLISACARIDOSIS TIPO IV) Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2005
Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea.
Hugo Salinas P., Jessica Preisler R., Julio Astudillo D., Sergio Cerda S.M., Silvia Castillo T., Flor Fernández S., Rodolfo Ide V.   +6 more
doaj  

Síndrome de Morquio.: A propósito de un caso.

, 2010
We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is ...
Álvarez Soler, Jaime, Álvarez-Soler, Jaime, Meza, Ivonne Alejandra   +2 more
core  

Anaesthesia considerations in a case of Morquio syndrome with bilateral mechanical vertebral artery occlusion: a case report

, 2021
Morquio syndrome (MS) or mucopolysaccharidosis (MPS) type IVA is a progressive lysosomal storage disorder with autosomal recessive inheritance. Deficiency of enzymes N-acetyl-galactosamine-6-sulphatase and beta-galactosidase which compromises the ...
Nagtilak, Harshada Hanamant, Shah, Nishita, Daftary, Swati, Mehta, Hemant   +3 more
core   +1 more source

Best abstracts from the APAGBI Annual Scientific Meeting 2024 [PDF]

Paediatr Anaesth
Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
europepmc   +2 more sources