Results 81 to 90 of about 4,093 (193)
Journal of Lipid Research, 2007 GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria +4 more
doaj +1 more source
JIMD Reports, Volume 65, Issue 2, Page 63-84, March 2024.Abstract Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens.
Nahya Awada, Martin Holcik
wiley +1 more source
Complicaciones de las incisiones quirúrgicas
Cirugía del Uruguay, 2020 Presentado en sesión de 18 de agosto de ...
A. Fernández Chapella +2 more
doaj
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 +14 more
wiley +1 more source
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 +7 more
wiley +1 more source
Growth charts for patients affected with Morquio A disease [PDF]
American Journal of Medical Genetics Part A, 2008 AbstractChildren with Morquio A disease grow poorly and become physically handicapped because of systemic bone disease. The purpose of this study was to describe observed growth patterns and their relationship with the physical condition of patients with Morquio A.
Adriana M, Montaño +4 more
openaire +2 more sources
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. +6 more
doaj
Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
core +2 more sources
Adult Morquio syndrome requiring occipito-thoracic fusion
Journal of Orthopaedic Surgery, 2020 Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder.
Ryosuke Okumura +6 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Anirudh J. Ullal +2 more
doaj +1 more source