Results 11 to 20 of about 1,770 (187)

Orthopedic management of the extremities in patients with Morquio A syndrome [PDF]

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, Andrea Jester, C. Edward Bache, Paul R. Harmatz, Renée Shediac, Mihir M. Thacker, William G. Mackenzie   +6 more
doaj   +5 more sources

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   +3 more sources

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

Respiratory Medicine Case Reports
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.
Minghan Shi, Birubi Biman
doaj   +3 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

Widespread Vasculopathy in a Patient with Morquio A Syndrome. [PDF]

Tex Heart Inst J, 2017
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as ...
Powell AW, Taylor MD, Burrow TA, Hopkin RJ, Prada CE, Jefferies JL.   +5 more
europepmc   +5 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   +2 more sources

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

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   +2 more sources

A second reported malignancy in a patient with Morquio syndrome

Autopsy and Case Reports, 2017
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma.
Ameer Hamza, Sidrah Khawar, Ahmad Ibrahim, Jacob Edens, Crystal Lalonde, Robert D. Danforth   +5 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   +2 more sources

Anaesthetic implications in a patient with Morquio A syndrome

Journal of Neuroanaesthesiology and Critical Care, 2015
In patients with Morquio A syndrome, almost all the systems of body are affected and this has a bearing on their anaesthetic management. Herein, we describe the management of child with Morquio A syndrome with atlanto-axial dislocation who underwent ...
Charu Mahajan, K. N. Adarsha, Bhagya R. Jena, Devendra Gupta, Shashi Srivastava   +4 more
doaj   +2 more sources