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Cervicothoracic Myelopathy in Children With Morquio Syndrome A
Journal of Pediatric Orthopaedics, 2014Craniovertebral junction anomalies and C1-C2 instability resulting in myelopathy have been well described in the literature on mucopolysaccharidosis IV (MPS-IV). Spinal involvement in MPS-IV patients, with neurological impairment, other than atlanto-axial instability and thoracolumbar kyphosis, has been scarcely mentioned in the literature ...
Wagner A R, Baratela +6 more
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Implementing evidence-driven individualized treatment plans within Morquio A Syndrome
Molecular Genetics and Metabolism, 2016Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~1 in 200,000 to 300,000 live births.(1) (Online access http://www.elseviercme.com/559) Individuals with Morquio A Syndrome have mutations in the gene that encodes N-acetylgalactosamine-6-sulfate sulfatase (GALNS), an ...
Lorne A, Clarke +2 more
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A new lysosomal storage disorder resembling Morquio syndrome in sibs
European Journal of Medical Genetics, 2012We report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children have short stature (below - 4SD) with short trunk, barrel chest, micromelia with rhizomelic shortening, severe ...
Perrin, Laurence +14 more
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Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred
American Journal of Medical Genetics, 1985AbstractA patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia.
R. B. Lowry +11 more
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Total knee replacements in a patient with the Morquio syndrome
The Journal of Bone and Joint Surgery. British volume, 2008The Morquio syndrome is a rare disorder which presents with a number of musculoskeletal problems. The literature describing total knee replacement in these patients is sparse. We describe the management of a patient with bilateral instability and pain in the knees using bilateral constrained knee replacements, and followed up for five years with pre ...
M, Atinga, A J, Hamer
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Cataracts in Morquio syndrome (mucopolysaccharidosis IV A).
Ophthalmic paediatrics and genetics, 1993Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients.
H, Olsen, K, Baggesen, A K, Sjolie
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The Morquio A Registry Study (MARS): Improving the understanding of Morquio syndrome type A
Molecular Genetics and Metabolism, 2015Sue Graham +4 more
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A case of a presumed diagnosis of Morquio syndrome
Molecular Genetics and Metabolism, 2023Linda Spencer, David Stockton
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