Results 101 to 110 of about 21,517,347 (239)

Widespread Vasculopathy in a Patient with Morquio A Syndrome

, 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.
Carlos E. Prada, Adam W. Powell, Michael D. Taylor, Robert J. Hopkin, T. Andrew Burrow, John L. Jefferies   +5 more
core   +1 more source

Adult Morquio syndrome requiring occipito-thoracic fusion

Journal of Orthopaedic Surgery, 2020
Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder.
Ryosuke Okumura, Keiji Hasegawa, Shintarou Tsuge, Katsunori Fukutake, Kazumasa Nakamura, Hiroshi Takahashi, Akihito Wada   +6 more
doaj   +1 more source

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

, 2020
Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS).
Alden, Tord D., Mackenzie, William G., Link, Bianca, Breathnach, Catherine Ann R., Theroux, Mary, Hendriksz, Christian J., Charrow, Joel, Manara, Renzo, Frawley, Geoffrey P., Offiah, Amaka C., Solano, Martha L.   +10 more
core   +1 more source

Antibodies that neutralize cellular uptake of elosulfase alfa are not associated with reduced efficacy or pharmacodynamic effect in individuals with Morquio A syndrome.

JIM - Journal of Immunological Methods, 2017
Many enzyme replacement therapies (ERTs) for lysosomal storage disorders use the cell-surface cation-independent mannose-6 phosphate receptor (CI-M6PR) to deliver ERTs to the lysosome.
Andrew C. Melton, R. K. Soon, T. Tompkins, B. Long, B. Schweighardt, Yulan Qi, Catherine Vitelli, A. Bagri, C. Decker, Charles A. O’Neill, Stephen J. Zoog, Lynne A. Jesaitis   +11 more
semanticscholar   +1 more source

Current and emerging management options for patients with Morquio A syndrome

Therapeutics and Clinical Risk Management, 2013
Mohamed F Algahim, G Hossein AlmassiDivision of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USAAbstract: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the
Algahim MF, Almassi GH
doaj  

Morquio syndrome: a report of a rare disease and literature review

, 2019
Morquio syndrome is a rare multisystem disease that leads to severe functional impairment. Serious morbidities and potentially fatal conditions may be present following affectation of various organs. Musculoskeletal abnormalities, including short stature,
Dim, Edwin M., Udomesiet, Ifiok C., Ugbeye, Michael E., Dim, Uchenna E.   +3 more
core   +1 more source

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Anirudh J. Ullal, David S. Millington, Deeksha S. Bali   +2 more
doaj   +1 more source

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet Journal of Rare Diseases, 2019
BackgroundMucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate,
H. Leong, N. A. Abdul Azize, H. Chew, W. Keng, M. Thong, Mohd Khairul Nizam Mohd Khalid, L. Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Y. Yakob, L. Ngu   +11 more
semanticscholar   +1 more source

Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist

Journal of Anaesthesiology Clinical Pharmacology, 2013
Morquio-Brailsford syndrome is a type of mucopolysaccharidoses. It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, odontoid hypoplasia, pectus carinatum, spine deformities, hepatomegaly, and ...
Souvik Chaudhuri, Arun Kumar Handigodu Duggappa, Shaji Mathew, Sandeep Venkatesh   +3 more
doaj   +1 more source

Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome.

Journal of Clinical Investigation, 2019
Immune response to therapeutic enzymes poses a detriment to patient safety and treatment outcome. Enzyme replacement therapy (ERT) is a standard therapeutic option for some types of Mucopolysaccharidoses including Morquio A syndrome caused by GALNS ...
A. Sosa, B. Kariuki, Q. Gan, A. Knutsen, C. Bellone, Miguel A. Guzmán, L. Barrera, S. Tomatsu, A. Chauhan, E. Armbrecht, Adriana M. Montaño   +10 more
semanticscholar   +1 more source