Results 31 to 40 of about 2,011 (197)

A case report of procedural management of an adult with morquio syndrome undergoing transcatheter aortic valve implantation. [PDF]

Eur Heart J Case Rep
Oneto A, Sakhuja R, Osho A, Langer NB, Eagleton MJ, Fitzsimons MG.   +5 more
europepmc   +3 more sources

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

Cureus
Farah RE, Farah RE, Ayasa IW, Abuisneina S.   +3 more
europepmc   +3 more sources

Correction to "Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA)". [PDF]

ACS Omega
Priya N M, Vasudevan V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +2 more sources

Morquio Syndrome [PDF]

, 2020
National Cancer Institute
openalex   +2 more sources

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report [PDF]

Radiology Case Reports
Mucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from deficiencies in specific enzymes (lysosomal hydrolases), leading to the accumulation of excessive mucopolysaccharides (glycosaminoglycan’s, GAGs).
Muluken Yifru Gebresilassie, MD, Abdudin Heru Mehammed, MD, Misganaw Yigletie Damtie, MD, Hawi Dida Midekso, MD, Natnael Alemu Bezabih, MD, Michael Teklehaimanot Abera, MD, Atsede Birhanu Worku, MD   +6 more
doaj   +2 more sources

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Afr J Paediatr Surg, 2016
Al Kaissi A, Kenis V, Melchenko E, Ghachem MB, Csepan R, Grill F, Ganger R.   +6 more
europepmc   +2 more sources

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis [PDF]

JMIR Research Protocols
BackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase ...
Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa   +5 more
doaj   +2 more sources

TAVI-in-TAVI in a patient with morquio syndrome: a case report. [PDF]

Eur Heart J Case Rep
Chin DXL, De Michele G, Cristofani D, De Felice F.   +3 more
europepmc   +2 more sources

Atlantoaxial arthrodesis using C1-C2 transarticular screw fixation in a case of Morquio syndrome

Indian Journal of Orthopaedics, 2011
Arvind G Kulkarni
exaly   +3 more sources

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome) [PDF]

Cochrane Database Syst Rev, 2018
Shemesh E, Deroma L, Hendriksz C, Hollak C, Krishan A.   +4 more
europepmc   +3 more sources