Results 51 to 60 of about 335,217 (205)

Scintigraphic features of Morquio's syndrome: a case report [PDF]

Journal of Medical Case Reports, 2011
To the best of our knowledge, we present for the first time the bone scintigraphy findings of a patient with Morquio's syndrome.A 46-year-old Caucasian man with Morquio's syndrome presented with lower back pain six weeks after a left total hip replacement.
Allman Kevin C, Kitzing Bjoern
openaire   +3 more sources

Natural History and Real‐World Data in Rare Diseases: Applications, Limitations, and Future Perspectives

The Journal of Clinical Pharmacology, Volume 62, Issue S2, Page S38-S55, December 2022., 2022
Abstract Rare diseases represent a highly heterogeneous group of disorders with high phenotypic and genotypic diversity within individual conditions. Due to the small numbers of people affected, there are unique challenges in understanding rare diseases and drug development for these conditions, including patient identification and recruitment, trial ...
Jing Liu, Jeffrey S. Barrett, Efthimia T. Leonardi, Lucy Lee, Satrajit Roychoudhury, Yong Chen, Panayiota Trifillis   +6 more
wiley   +1 more source

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   +5 more sources

Hematopoietic stem cell transplantation for Morquio A syndrome [PDF]

Molecular Genetics and Metabolism, 2016
Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described.
Hiromasa, Yabe, Akemi, Tanaka, Yasutsugu, Chinen, Shunichi, Kato, Kazuki, Sawamoto, Eriko, Yasuda, Haruo, Shintaku, Yasuyuki, Suzuki, Tadao, Orii, Shunji, Tomatsu   +9 more
openaire   +2 more sources

Widespread Vasculopathy in a Patient with Morquio A Syndrome [PDF]

Texas Heart Institute Journal, 2017
Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as ...
Adam W, Powell, Michael D, Taylor, T Andrew, Burrow, Robert J, Hopkin, Carlos E, Prada, John L, Jefferies   +5 more
openaire   +2 more sources

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Orphanet Journal of Rare Diseases, 2020
Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden.
Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, John J. Mitchell   +4 more
doaj   +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

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

I-gel assisted fiberoptic intubation in a child with Morquio′s syndrome

Saudi Journal of Anaesthesia, 2015
Morquio′s syndrome, also known as mucopolysaccharidosis type IV is an autosomal recessive disorder, caused by deficiency of n-acetylgalactosamine-6-sulphate.
Sangeeta Dhanger, Sethuramachandran Adinarayanan, Stalin Vinayagam, Mohanasundaram Praveen Kumar   +3 more
doaj   +1 more source

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