Results 111 to 120 of about 4,093 (193)

Determinación de hexosamines en orina por HPLC para el diagnóstico de mucopolisacariosis tipo III [PDF]

, 2014
Treballs Finals de Grau de Química, Facultat de Química, Universitat de Barcelona, Any: 2014, Tutors: Dra. Elisabet Fuguet Jordà i Dr. Rafael Artuch IriberriIn the present work a reported analytical method was optimized in order to improve the ...
Zamora Campos, Nelson
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Aneurisma arterio venoso carótido cavernoso

Cirugía del Uruguay, 2020
Presentado en sesión de 12 de noviembre de ...
Pedro Larghero Ibarz, R Rodríguez Barrios, J Scherchener, A. Morquio   +3 more
doaj  

Infant mortality in housing: the consequences of field-city migration in Santiago (Chile, 1865-1930) [PDF]

, 2018
El artículo analiza la conformación de la infraestructura urbana y las consecuencias de este entorno en la mortalidad infantil durante la segunda mitad del siglo XIX y los inicios del siglo XX, mostrando los efectos de la migración campo-ciudad ...
Chávez Zúñiga, Pablo
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Morquio syndrome. Case report

Revista de la Facultad de Ciencias de la Salud, 2010
We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is ...
Ivonne Alejandra Meza, Jaime Álvarez-Soler   +1 more
doaj   +2 more sources

A case of morquio's disease [PDF]

Archives of Disease in Childhood, 1939
openaire   +2 more sources

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
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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

Conducta perioperatoria en pacientes con Mucopolisacaridosis tipo IV. Presentación de un caso

Revista Cubana de Anestesiología y Reanimación, 2003
Introducción: Las mucopolisacaridosis son un grupo raro de enfermedad familiarprogresiva del metabolismo del tejido conectivo causada por ausencia ó insuficiencia deenzimas claves en el metabolismo de sus tres componentes principales.
Reynier Redondo Gómez, Ulysses Jiménez Alba, Juliette Suárez López, Herenia Placencia, Lourdes Arce Despaigne, Alexis González Páez   +5 more
doaj  

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