Results 11 to 20 of about 2,011 (197)

Increased Choroidal Thickness in Morquio Syndrome [PDF]

Case Reports in Ophthalmology, 2021
The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent ...
Augusto Magalhães, Rodrigo Vilares-Morgado, Ana Maria Cunha, Elisa Leão-Teles, Manuel Falcão, Ângela Carneiro, Fernando Falcão-Reis   +6 more
doaj   +4 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

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, Andrea Jester, Paul R Harmatz   +2 more
exaly   +3 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

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

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   +2 more sources

A second reported malignancy in a patient with Morquio syndrome [PDF]

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   +2 more sources

Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A [PDF]

BMC Research Notes, 2022
Objective Life expectancy can be estimated accurately from a cohort of individuals born in the same year and followed from birth to death. However, due to the resource-consuming nature of following a cohort prospectively, life expectancy is often ...
Xue Yin, Jaeil Ahn, Simina M. Boca
doaj   +2 more sources

General anaesthesia in an adult patient with Morquio syndrome with emphasis on airway issues

Biomolecules & Biomedicine, 2012
Patients with Morquio syndrome possess a number of characteristics which may complicate an anaesthetic procedure. The most important is that a deposition of mucopolysaccharides in the soft tissues of the oro-pharynx distorts the airway, making the airway
Lajla Kadić, Jacques J. Driessen
doaj   +3 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

Mortality in patients with morquio syndrome a. [PDF]

JIMD Rep, 2015
Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age.To better understand the natural progression of the ...
Lavery C, Hendriksz C.
europepmc   +4 more sources