Results 51 to 60 of about 21,517,347 (239)

Morquio's Disease

Paediatrica Indonesiana, 2021
Morquio's disease belongs to the group of mucopolysaccharidosis which causes deformities of the bones. The diagnosis is made by radiological examinations and others such as biochemical examination. Four cases of Morquio's disease are presented, which are the first reported in the Indonesian literature.
W.T. Karyomanggow, L. A. Tamaela, Hariarti S. Pramuljo   +2 more
openaire   +1 more source

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

International Journal of Molecular Sciences, 2020
Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene.
Akari Nakamura-Utsunomiya, T. Nakamae, R. Kagawa, S. Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Y. Matsubara, T. Ishino, G. Tajima, S. Okada   +10 more
semanticscholar   +1 more source

International guidelines for the management and treatment of Morquio A syndrome [PDF]

, 2015
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Martha Solano Villarreal, Savarirayan, Ravi, Raiman, J, Villarreal, Martha Solano, William G. Mackenzie, Kampmann, C, Christoph Kampmann, Giugliani, R, Christian J. Hendriksz, Mackenzie, WG, Savarirayan, R, Roberto Giugliani, Paul Harmatz, Julian Raiman, Berger, KI, Villarreal, MS, Harmatz, Paul, Hendriksz, CJ, Ravi Savarirayan, Kampmann, Christoph, Raiman, Julian, Harmatz, P, Kenneth I. Berger, Berger, Kenneth I, Giugliani, Roberto, Hendriksz, Christian J, Mackenzie, William G   +26 more
core   +1 more source

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]

Korean Journal of Pediatrics, 2012
PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin   +7 more
doaj   +1 more source

Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions

International Journal of Molecular Sciences
Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly ...
J. Alvarez, S. Bravo, M. P. Chantada-Vázquez, Carmen Pena, Cristóbal Colón, Shunji Tomatsu, Francisco J Otero-Espinar, M. Couce   +7 more
semanticscholar   +1 more source

Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis (MPS) type IVA is a rare lysosomal storage disorder caused by aberrations of the N-acetyl-galactosamine-6-sulfatase (GALNS) enzyme. MPS IVA is associated with a wide gamut of respiratory and airway disorders that manifest
J. Kenth, Elizabeth Maughan, Colin R Butler, J. Gabrie, Maral J. Rouhani, Benjamin Silver, O. Ogunbiyi, Stuart Wilkinson, R. Nandi, R. Walker, N. Muthialu, Simon Jones, Richard Hewitt, Iain A. Bruce   +13 more
semanticscholar   +1 more source

Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report

Acta Orthopaedica et Traumatologica Turcica, 2020
Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth.
Ali Bulent Baz, Serdar Akalin, Hasan Arik, Ali Ergun   +3 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

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   +1 more source

Enfermedad de Morquio. Reporte de un caso [PDF]

, 2018
La mucopolisacaridosis tipo IV-A (enfermedad de Morquio) es una enfermedad autosómica recesiva por acúmulo lisosomal, causada por mutaciones en el gen de la N-acetylgalactosamine-6-sulfato sulfatasa, que resulta en la falta de catabolismo de dos ...
López López, José Manuel, Pompa Carrazana, Susana Grey, Duany Almira, Luis Félix, Sánchez Guerra, José Alberto   +3 more
core