Results 61 to 70 of about 5,240 (183)

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts

, 2023
Morquio disease, also called mucopolysaccharidosis IV (MPS IV), belongs to the group of lysosomal storage diseases (LSD). Due to deficiencies in the activities of galactose-6-sulfate sulfatase (in type A) or β-galactosidase (in type B), arising from
Grzegorz Węgrzyn, Lidia Gaffke, Karolina Pierzynowska, Joanna Brokowska   +3 more
core   +1 more source

Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis type I (MPS I) is a rare metabolic disorder caused by deficiency of α-L-iduronidase (IDUA), resulting in glycosaminoglycan (GAG) accumulation and multisystemic disease.
Lalitha R. Belur, Avery K. Huber, Hillary Mantone, Mason Robertson, Miles C. Smith, Andrea D. Karlen, Kelley F. Kitto, Li Ou, Chester B. Whitley, Elizabeth Braunlin, Justin Furcich, Troy C. Lund, Davis Seelig, Carolyn A. Fairbanks, Nicholas Buss, Kwi Hye Kim, R. Scott McIvor   +16 more
doaj   +1 more source

Whole body-dual energy X-ray absorptiometry to test body composition and bone mineral density in children with mucopolysaccharidosis type IV

, 2001
The paper deals with whole body-dual energy X-ray absorptiometry applied in children with mucopolysaccharidosis type IV (or Morquio syndrome)
Rigante, D
core  

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

, 2022
Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy ...
Vera M. Shinkareva, Yurii A. Kozlov, Natalia I. Manjkova, Andrei B. Yakovlev, Evgenii A. Balakirev, Tatyana V. Barzunova, Yulia P. Semschikova   +6 more
core   +1 more source

Construcción de un vector de expresión derivado de virus adenoasociados para corregir in vitro el defecto genético de la enfermedad de Morquio A

Biomédica: revista del Instituto Nacional de Salud, 2008
Introducción. La mucopolisacaridosis IV A (Morquio A) es una enfermedad de depósito lisosómico causada por la deficiencia en la actividad de la enzima N-acetil-galactosamina- 6-sulfato-sulfatasa que produce la acumulación intralisosómica de queratán y ...
Luis Alejandro Barrera, Mónica A. Gutiérrez, Felipe García Vallejo, Shunji Tomatsu, Flavio Cerón, Carlos J. Alméciga Díaz, Martha C. Domínguez   +6 more
doaj   +1 more source

Mucopolysaccharidosis II, IV-A and VI: First Colombian Neuropsychological Characterization

, 2016
The Mucopolysaccharidosis [MPS] are a group of orphan or rare genetic diseases characterized by lysosomal storage disorders which are recognized by bone malformations and neuropsychological implications that have not been studied so far. For this reason,
astañeda-Ibáñez, Nolly Nataly C, Acosta-Barreto, María Rocio   +1 more
core  

Morquio B disease: a case report

Frontiers in Pediatrics
Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33.
Tara Gholamian, Harpreet Chhina, Sylvia Stockler, Sylvia Stockler, Anthony Cooper, Anthony Cooper   +5 more
doaj   +1 more source

Early Diagnosis and Treatment of Patients with Mucopolysaccharidosis IV and VI

N.N. Priorov Journal of Traumatology and Orthopedics, 2016
Mucopolysaccharidosis (MPS) is an orphan pathology characterized by polymorphism of clinical manifestations and development of typical skeletal changes. However in early childhood the clinical picture is not clear that leads to misdiagnosis and results in inadequate management of patients including unjustified surgical intervention.
L. K. Mikhailova, T. V. Sokolova, O. A. Polyakova   +2 more
openaire   +1 more source

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

, 2019
Introducción: Las enfermedades huérfanas son enfermedades de muy baja prevalencia en Colombia. Una de ellas es la Mucopolisacaridosis tipo IV, que cuenta con un tratamiento para mejorar las complicaciones de la enfermedad.
Gutierrez Delgadillo, Jessica Tatiana
core   +1 more source

Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels

Frontiers in Bioscience-Landmark
Background: Mucopolysaccharidosis (MPS) is a class of hereditary metabolic diseases that demonstrate itself by accumulating incompletely degraded glycosaminoglycans (GAGs).
Karolina Wiśniewska, Magdalena Żabińska, Lidia Gaffke, Aneta Szulc, Beata M. Walter, Grzegorz Węgrzyn, Karolina Pierzynowska   +6 more
doaj   +1 more source