Results 11 to 20 of about 4,093 (193)

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]

Journal of Inherited Metabolic Disease, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +6 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

Morquio syndrome (MPV IV)-A case report

Indian Journal of Ophthalmology, 1991
A child, of normal intelligence, belonging to a nonconsanguineous marriage was diagnosed as MPS type IV the so called Morquio syndrome. Despite mild corneal cloudiness no other ophthalmological abnormalities were observed.
Rekhi Gulbir
doaj   +2 more sources

Plasma Proteomic Analysis in Morquio A Disease [PDF]

International Journal of Molecular Sciences, 2021
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal disease caused by mutations in the gene encoding the enzymeN-acetylgalactosamine-6-sulfate sulfatase (GALNS), and is characterized by systemic skeletal dysplasia due to excessive storage of keratan sulfate (KS) and chondroitin-6-sulfate in chondrocytes.
José V. Álvarez, Susana B. Bravo, María Pilar Chantada-Vázquez, Sofía Barbosa-Gouveia, Cristóbal Colón, Olalla López-Suarez, Shunji Tomatsu, Francisco J. Otero-Espinar, María L. Couce   +8 more
openaire   +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, Kamleshun, Mejias, Stephanie G, Ramphul-Sicharam, Yogeshwaree   +2 more
openaire   +3 more sources

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

Orphanet Journal of Rare Diseases, 2020
Background Cardiovascular disease frequently causes morbidity and mortality in mucopolysaccharidoses (MPS); however, cardiovascular anatomy and dysfunction in MPS IVA (Morquio A disease) is not well described.
Raymond Y. Wang, Kyle D. Rudser, Donald R. Dengel, Nicholas Evanoff, Julia Steinberger, Nina Movsesyan, Robert Garrett, Katherine Christensen, Deborah Boylan, Stephen R. Braddock, Marwan Shinawi, Qi Gan, Adriana M. Montaño   +12 more
doaj   +1 more source

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Prenatal diagnosis of morquio disease type A using a simple fluorometric enzyme assay [PDF]

, 1990
A new fluorogenic substrate, 4 methylumbelliferyl B-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than
Diggelen, O.P. (Otto) van, Huijmans, J.G.M. (Jan), Kleijer, W.J. (Wim), Mazurczak, T., Thoomes, R. (R.), Young, E., Zhao, H. (Hui)   +6 more
core   +8 more sources

Orthopedic management of the extremities in patients with Morquio A syndrome. [PDF]

, 2014
BackgroundMusculoskeletal 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,
Bache, C Edward, Harmatz, Paul R, Jester, Andrea, Mackenzie, William G, Shediac, Renée, Thacker, Mihir M, White, Klane K   +6 more
core   +1 more source

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

JBMR Plus, Volume 7, Issue 12, December 2023., 2023
We identified differences in cytokine expression in multiple types of pediatric skeletal dysplasia as compared to typically growing children. Four of the 12 analyzed cytokines demonstrated elevated expression above control levels in all of the dysplasia cohorts (IL‐12, IL‐13, IP‐10, RANTES) and 2 demonstrated expression below control levels across all ...
David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober   +6 more
wiley   +1 more source