Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome [PDF]
Molecular Genetics and Metabolism ReportsBackground: 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.
Carolina F.M. de Souza +9 more
doaj +3 more sources
Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome
Drug Design, Development and Therapy, 2022 Chung-Lin Lee,1– 5 Chih-Kuang Chuang,6,7 Huei-Ching Chiu,1 Ru-Yi Tu,6 Yun-Ting Lo,5 Ya-Hui Chang,1,5 Shuan-Pei Lin,1,3,5,6,8 Hsiang-Yu Lin1,3– 6,9 1Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; 2Institute of Clinical Medicine ...
Lee CL +7 more
doaj +2 more sources
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome
Molecular Genetics and Metabolism Reports, 2022 Mucopolysaccharidosis IVA or Morquio A syndrome is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency. A diagnosis can be provided by the identification of reduced N-acetylgalactosamine-6-sulfatase activity as well ...
Kathryn DeLong +4 more
doaj +2 more sources
Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. [PDF]
Anesth Analg, 2023 BACKGROUND: Recently, tracheal narrowing has been recognized as a significant comorbid condition in patients with Morquio A, also known as mucopolysaccharidosis IVA.
Theroux MC +16 more
europepmc +2 more sources
Orphanet Journal of Rare Diseases, 2020 Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden.
Lina Moisan +4 more
doaj +2 more sources
Orphanet Journal of Rare Diseases, 2020 Background Cardiovascular disease frequently causes morbidity and mortality in mucopolysaccharidoses (MPS); however, cardiovascular anatomy and dysfunction in MPS IVA (Morquio A disease) is not well described.
Raymond Y. Wang +12 more
doaj +2 more sources
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 +3 more
doaj +2 more sources
Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]
ACS OmegaMorquio syndrome A, also known as mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder resulting from mutations in the gene responsible for N-acetylgalactosamine-6-sulfatase.
Priya M +4 more
europepmc +2 more sources
Hearing loss in patients with Morquio A syndrome: A scoping review. [PDF]
Medicine (Baltimore)Background: Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form
Diaz-Ordoñez L +8 more
europepmc +2 more sources
Orthopedic management of the extremities in patients with Morquio A syndrome
Journal of Children's Orthopaedics, 2014 Background Musculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature,
Klane K White +2 more
exaly +2 more sources