Results 101 to 110 of about 3,016 (187)

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  

Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome. [PDF]

Radiol Case Rep, 2022
Cadena Arteaga JA, Lasso Andrade FA, Achicanoy Puchana DM, Achicanoy Puchana DF, Caicedo Morillo GN, Medina Bravo PA, Juez Neira WF, Vanegas Bastidas CR, Montoya Ríos DC, Vasquez Correa KJ, Suárez Cuéllar LC, Osorio Segura LJ.   +11 more
europepmc   +1 more source

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies. [PDF]

Mol Syndromol, 2022
Selvam P, Jain A, Abbott J, Ahuja AS, Cheema A, Bruno KA, Atwal H, Forghani I, Caulfield T, Atwal PS.   +9 more
europepmc   +1 more source

Cervical Cord Decompression and Posterior Cervical Immobilization Following Anterior C1-C2 Subluxation in a Patient with MPS Type IV (Morquio Syndrome) : A Team Approach

Siriraj Medical Journal, 2003
We report a 23 month old gril who presented with right hemiparesis after falling for 6 months. She was also diagnosed with mucopolysaccharidosis type IV (Morquio syndrome) with C1-C2 subluxation.
Suwannee Suraseranivongse, Pornswan Wasant, Achara Sathienkijkanchai, Surin Thanapipatsiri   +3 more
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Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV). [PDF]

Diagnostics (Basel), 2021
Salazar-Torres JJ, Church C, Shields T, Shrader MW, Fisher L, Mackenzie WG, Mackenzie WGS.   +6 more
europepmc   +1 more source

Genetic disorders in the Indian community of South Africa [PDF]

, 2016
OBJECTIVES: To determine the range of genetic disorders in the Indian population of South Africa, assess relevant historical and demographic factors, and discuss the implications for medical and genetic care.
Beighton, P, Winship, W S
core  

Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase

Molecules
Morquio A syndrome is a lysosomal disorder caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine 6-sulfatase (GALNS, EC 3.1.6.4).
Maria Giulia Davighi, Francesca Clemente, Giampiero D’Adamio, Macarena Martínez-Bailén, Alessio Morano, Andrea Goti, Amelia Morrone, Camilla Matassini, Francesca Cardona   +8 more
doaj   +1 more source

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.

JMIR Res Protoc, 2022
Diaz-Ordoñez L, Candelo E, Silva-Cuero K, Saldarriaga W, Murgašová L, Magner M, Pachajoa H.   +6 more
europepmc   +1 more source

Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature

Indian Journal of Dental Research, 2007
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia.
Kurian K, Shanmugam S, Harsh Vardah T, Gupta Siddharth   +3 more
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