Results 131 to 140 of about 335,217 (205)

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  

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
doaj  

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

Morquio's Syndrome - A Case Report -

Journal of the Korean Orthopaedic Association, 1989
Kyung Soo Choi, Eu Sub Choung, Chang Real Yang   +2 more
openaire   +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

Morquio Syndrome Presenting with Dural Band Pathology: A Case Report. [PDF]

J Lab Physicians, 2020
Gupta S, Sengar K, Subramanian A, Satyarthee G.   +3 more
europepmc   +1 more source

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +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
doaj  

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA [PDF]

, 2012
A Dorfman, A James, A Koto, A McDonald, A Sheiham, AH Yeung, AM Montaño, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories, B Käsmann-Kellner, BS Danes, C. Gail Summers, CF Wippermann, Christian J. Hendriksz, Ciarán Mc Ardle, CJ Pelley, DB Davis, DM Gross, E Franco, E Schleier, ED Riedner, Elizabeth Braunlin, Elizabeth Wright, F Bromo, F Nicolini, FA Abraham, G Keleman, GL Semenza, GN Lael, H Northover, H Olsen, I Rolling, IH Maumenee, J Ashraf, J Couprie, J Glössl, J Lustmann, J Muenzer, J Nelson, J Nelson, J Nelson, J Nelson, JE Wraith, JE Wraith, JF Brailsford, JG Leroy, JH Dangel, JK Bredenkamp, JL Ashworth, JL Clausen, JP Gills, Kenneth I. Berger, KG Belani, L Geetha, LB Cantor, LS Leung, M Cahane, M Ghosh, M Iwamoto, M Sibilio, MA Gatzoulis, MA Ireland, Maisoon Al-Jawad, ME Dangel, ME Peters, MJ Kinirons, MO Barry, MR Pritzker, N Latif, P Harmatz, P Harmatz, P Harmatz, PD Robinson, PP Walker, PS Pagel, R Minami, R Minami, Rebecca Lawrence, RM John, RM Schieken, RO Bonow, RO Bonow, RT Sataloff, S Desai, S Kato, S Sato, S Tomatsu, S Tomatsu, Sara M. Hawley, SJ Swiedler, SL Shih, SM Factor, T Kuratani, T Leslie, TZ Nursal, UR Mohan, V Fesslová, W Holzgreve, WJ Buhain, WS Sly, Y Yamakoshi   +99 more
core   +2 more sources