Results 1 to 10 of about 4,093 (193)

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

Clin Case Rep
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 ...
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +3 more sources

Morquio B disease: a case report. [PDF]

Front Pediatr
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.
Gholamian T, Chhina H, Stockler S, Cooper A.   +3 more
europepmc   +4 more sources

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome [PDF]

Mol Genet Metab Rep
Background: Morquio A syndrome is associated with progressive loss of ambulatory capacity. The impact of elosulfase alfa enzyme replacement therapy (ERT), the approved treatment for Morquio A, remains understudied in non-ambulatory patients.
de Souza C, Burton B, Campeau P, Giugliani R, Guffon N, Lampe C, Muschol N, Sivri S, Solano M, Stepien K.   +9 more
europepmc   +2 more sources

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa [PDF]

Orphanet Journal of Rare Diseases, 2017
Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evaluated in an open-
D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel   +8 more
doaj   +4 more sources

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]

BMC Medical Genetics, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone   +12 more
doaj   +6 more sources

Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing. [PDF]

Respir Med Case Rep
Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway.
Shi M, Biman B.
europepmc   +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

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

Molecular Genetics and Metabolism Reports, 2022
Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and ...
Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie   +10 more
doaj   +1 more source

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Diagnostics, 2020
Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska, Krzysztof Szklanny, Jolanta Marucha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome

Diagnostics, 2021
Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of
Madhavi V. Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, Thomas H. Shaffer   +5 more
doaj   +1 more source