Results 131 to 140 of about 2,254 (171)

Mucopolysaccharidosis Type IVA [PDF]

, 2020
openaire   +1 more source

Typical presentation of mucopolysaccharidosis type IVA: a case report

International Journal of Contemporary Pediatrics
Mucopolysaccharidosis (MPS) IVA, or Morquio syndrome, is a rare lysosomal storage disorder characterized by skeletal dysplasia. It is caused due to deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS), which results from an autosomal recessive mutation in the GALNS gene. The frequency of this mutation is equivalent in men and women.
Kovvuru Ashrita, Ethuri Lokesh
openaire   +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

Overcoming the barriers to diagnosis of Morquio A syndrome [PDF]

, 2014
Adeline Tan, Akemi Tanaka, Albert D Yang, Anita Inwood, Antony Fu, Dong Kyu Jin, Hasri Samion, Hsiang-Yu Lin, Jim McGill, Kaustuv Bhattacharya, Michael Fietz, Motomichi Kosuga, Nancy J Mendelsohn, Ok-Hwa Kim, Shanti Balasubramaniam, Shuan-Pei Lin, Teck-Hock Toh, Torayuki Okuyama, Verasak Thamkunanon, Yew Sing Choy, Young Hee Kwun   +20 more
core   +1 more source

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

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study. [PDF]

Orphanet J Rare Dis, 2020
Ficicioglu C, Matalon DR, Luongo N, Menello C, Kornafel T, Degnan AJ.   +5 more
europepmc   +1 more source

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 [PDF]

, 2016

core   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source

Integrase-Deficient Lentiviral Vector as a Platform for Efficient CRISPR/Cas9-Mediated Gene Editing for Mucopolysaccharidosis IVA. [PDF]

Int J Mol Sci
Nidhi F, Tomatsu S.
europepmc   +1 more source