Results 41 to 50 of about 2,254 (171)

Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

BMC Pediatrics, 2021
Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and ...
Zhuhui Ge, Jianhua Mao, Huijun Shen, Yu Xu, Haidong Fu, Weiwei Zhang, Dongyan Li   +6 more
doaj   +1 more source

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. [PDF]

Mol Genet Metab, 2013
Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S.   +8 more
europepmc   +6 more sources

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

, 2014
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 ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations [PDF]

Journal of Human Genetics, 2010
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) and transmitted as an autosomal recessive trait. This is the first systematic mutation screen in Chinese MPS IVA patients. Mutation detections in 24 unrelated Chinese MPS IVA patients were performed by
Zheng, Wang, Weimin, Zhang, Yun, Wang, Yan, Meng, Liang, Su, Huiping, Shi, Shangzhi, Huang   +6 more
openaire   +2 more sources

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

JIMD Reports, 2021
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase.
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal   +5 more
doaj   +1 more source

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. [PDF]

, 2014
ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:
A McDonald, AE Lammers, AM Li, AM Montaño, American Thoracic Society, American Thoracic Society, Barbara Burton, C Hendriksz, Christian J. Hendriksz, CJ Hendriksz, DB Rubin, Debra Lounsbury, Derralynn Hughes, E Yasuda, Eugen Mengel, J Muenzer, J Muenzer, J Nelson, J Nelson, JE Wraith, LA Clarke, LA Martell, M Dvorak-Ewell, Maurizio Scarpa, MF Algahim, P Harmatz, P Harmatz, P Harmatz, P Harmatz, Paul Harmatz, Peter Slasor, R Aslam, RJ Barst, RJA Butland, Roberto Giugliani, S Tomatsu, Shuan-Pei Lin, Simon A. Jones, Thomas R. Fleming, TR Fleming, Vassili Valayannopoulos, VC Dũng, Wolfgang Dummer, Y Hochberg   +43 more
core   +2 more sources

Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]

, 2018
We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James, Chakrapani, Anupam, Frisson, S., Gissen, Paul, Hendriksz, Chris, Kearney, Shauna, MacDonald, Anita, Olson, Andrew, Vijay, Suresh   +8 more
core   +3 more sources

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Stem Cell Research, 2019
Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner.
Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Carlos J. Alméciga-Díaz, Wei Zheng   +6 more
doaj   +1 more source

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]

, 2017
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I, Burton, Barbara K, Decker, Celeste, Geberhiwot, Tarekegn, Harmatz, Paul R, Hendriksz, Christian J, Jameson, Elisabeth, Jester, Andrea, Mengel, Eugen, Muschol, Nicole, Sisic, Zlatko, Treadwell, Marsha   +11 more
core   +1 more source

Increased Choroidal Thickness in Morquio Syndrome

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, Rodrigo Vilares-Morgado, Ana Maria Cunha, Elisa Leão-Teles, Manuel Falcão, Ângela Carneiro, Fernando Falcão-Reis   +6 more
doaj   +1 more source