Results 1 to 10 of about 335,224 (186)

Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome [PDF]

Case Reports in Pediatrics, 2023
Introduction. The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction.
Claire Frauenfelder, Elizabeth Maughan, Johnny Kenth, Reema Nandi, Simon Jones, Robert Walker, Bill Walsh, Nagarajan Muthialu, Iain Bruce, Richard Hewitt, Colin Butler   +10 more
doaj   +6 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   +7 more sources

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome [PDF]

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, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood   +4 more
doaj   +3 more sources

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study [PDF]

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, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, John J. Mitchell   +4 more
doaj   +3 more sources

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

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   +3 more sources

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]

Journal of Inherited Metabolic Disease, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +7 more sources

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

Clinical Case Reports
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 ...
Bijay Bastola, Sweekar Dahal, Ramesh Raj Acharya, Manish Sah, Pratisma Wagle   +4 more
doaj   +3 more sources

Overcoming the barriers to diagnosis of Morquio A syndrome. [PDF]

Orphanet J Rare Dis, 2014
Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a
Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, Kim OH, Kosuga M, Kwun YH, Inwood A, Lin HY, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP.   +20 more
europepmc   +5 more sources

Anaesthetic considerations of adults with Morquio's syndrome - a case report [PDF]

BMC Anesthesiology, 2010
Background The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the ...
Donnelly Maria B, Farooq Muhammad, McLaughlin Anne, Foley Kieran   +3 more
doaj   +9 more sources

Morquio syndrome: A radiological diagnosis

CHRISMED Journal of Health and Research, 2015
Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (MPS).
Sadhanandham Shrinuvasan, Ranganathan Chidambaram   +1 more
doaj   +2 more sources