Results 11 to 20 of about 335,217 (205)

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

Autops Case Rep, 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.
Hamza A, Khawar S, Ibrahim A, Edens J, Lalonde C, Danforth RD.   +5 more
europepmc   +4 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   +3 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

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   +5 more sources

Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome

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   +4 more sources

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies. [PDF]

Mol Syndromol, 2022
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome.
Selvam P, Jain A, Abbott J, Ahuja AS, Cheema A, Bruno KA, Atwal H, Forghani I, Caulfield T, Atwal PS.   +9 more
europepmc   +2 more sources

Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases.

J Craniovertebr Junction Spine, 2020
Morquio syndrome (MS) is an autosomal recessive defect caused by the deficiency of N-acetylgalactosamine-6-sulfatase. Odontoid hypoplasia, periodontoid soft tissue deposition, and cervical stenosis lead to myelopathy and quadriparesis in these patients ...
Singh S, Sardhara J, Raiyani V, Srivastava AK, Behari S.   +4 more
europepmc   +2 more sources

Increased Choroidal Thickness in Morquio Syndrome. [PDF]

Case Rep Ophthalmol, 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 ...
Magalhães A, Vilares-Morgado R, Cunha AM, Leão-Teles E, Falcão M, Carneiro Â, Falcão-Reis F.   +6 more
europepmc   +2 more sources

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV). [PDF]

Diagnostics (Basel), 2021
Morquio syndrome (mucopolysaccharidosis IV/MPS IV) is a genetic disorder leading to skeletal abnormalities and gait deviations. Research on the gait patterns and lower extremity physical characteristics associated with skeletal dysplasia in children with
Salazar-Torres JJ, Church C, Shields T, Shrader MW, Fisher L, Mackenzie WG, Mackenzie WGS.   +6 more
europepmc   +2 more sources

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights. [PDF]

Cureus
Morquio A syndrome, also known as mucopolysaccharidosis type IVA (MPS IVA), is a rare lysosomal storage disorder that mostly affects the skeletal system.
Farah RE, Farah RE, Ayasa IW, Abuisneina S.   +3 more
europepmc   +2 more sources