Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder [PDF]
Clinical Case ReportsThis 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 +4 more
doaj +3 more sources
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 +6 more
doaj +5 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 +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 +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 +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
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 +3 more
doaj +4 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 +8 more
doaj +4 more sources
Simultaneous bilateral total hip arthroplasty in Morquio syndrome [PDF]
Arthroplasty Today, 2017 A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months.
Imran Ilyas, MCh (Orth), FRCS +3 more
doaj +2 more sources
Morquio Syndrome: A Case Report. [PDF]
Cureus, 2018 Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio
Ramphul K +2 more
europepmc +3 more sources