Results 31 to 40 of about 21,517,347 (239)

Contribución Colombiana al Conocimiento de la Enfermedad de Morquio A

Medicina, 2012
La enfermedad de Morquio A o Mucopolisacaridosis IV A es un trastorno de depósito lisosomal producidapor alteración en la actividad de la enzima N-acetilgalactosamina-6-sulfato sulfatasa (GALNS) encargada de la degradación de queratán y condroitin-6 ...
Carlos Javier Alméciga Díaz, Adriana María Montaño Suárez, Shunji Tomatsu, Luis Alejandro Barrera A.   +3 more
doaj   +1 more source

Morquio B disease: a case report [PDF]

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   +2 more sources

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +2 more sources

A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Annals of Internal Medicine: Clinical Cases
Morquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex.
Gauri Patel, Olakanmi Joseph Deleawe
doaj   +3 more sources

Morquio syndrome. Case report

Revista de la Facultad de Ciencias de la Salud, 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 ...
Ivonne Alejandra Meza, Jaime Álvarez-Soler   +1 more
doaj   +3 more sources

Hematopoietic stem cell transplantation for Morquio A syndrome

Molecular Genetics and Metabolism, 2016
Hiromasa Yabe, Akemi Tanaka, Yasutsugu Chinen   +2 more
exaly   +2 more sources

Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease

Frontiers in Cardiovascular Medicine, 2022
Cardiovascular disease (CVD) in Mucopolysaccharidosis Type IVA (Morquio A), signified by valvular disease and cardiac hypertrophy, is the second leading cause of death and remains untouched by current therapies.
Brittany Montavon, Linda E. Winter, Qi Gan, Amirhossein Arasteh, Adriana M. Montaño, Adriana M. Montaño   +5 more
doaj   +1 more source

Morquio A Syndrome Case Report and Literature Review

Scholars Journal of Medical Case Reports, 2023
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
J. M., E. M, Z. B, B. D, J. H
semanticscholar   +1 more source

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Human Mutation, 2021
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐6‐sulfatase (GALNS) gene.
A. Zanetti, F. D’Avanzo, M. AlSayed, A. Brusius-Facchin, Y. Chien, R. Giugliani, E. Izzo, D. Kasper, Hsiang-Yu Lin, Shuan-Pei Lin, L. Pollard, Akashdeep Singh, Rodolfo Tonin, T. Wood, A. Morrone, R. Tomanin   +15 more
semanticscholar   +1 more source

Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.

Molecular Genetics and Metabolism, 2022
BACKGROUND The Morquio A Registry Study (MARS) is an ongoing, multinational, observational study of patients with MPS IVA. Key objectives of MARS are to characterize the heterogeneity and natural history of disease and to evaluate long-term effectiveness
John J. Mitchell, B. Burton, M. Bober, Philippe M. Campeau, S. Cohen, Sara Dosenovic, C. Ellaway, K. Bhattacharya, N. Guffon, D. Hinds, A. Lail, Shuan-Pei Lin, M. Magner, J. Raiman, Liat Schwartz-Sagi, K. Stepien   +15 more
semanticscholar   +1 more source