Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Autor: Julia Mugnaini, Jonathan D. Cooper, Favio Pesaola, Frances M. Platt, Heather R. Adams, Romina Kohan, Perla K. de Hidalgo, Rachel Brown, Ana María Oller de Ramirez, Inés Adriana Cismondi, Inés Noher de Halac, Gisela Evelín Rautenberg, Michael Bond, Sophia-Martha Kleine Holthaus, Sara E. Mole

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1852(10):2316-2323

This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's Training Programs. Our aim is to deve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1275537d21fca1bb7d602101962263cb

A translational research experience in Argentina

Autor: Kohan, R., Pesaola, F., Guelbert, N., Pons, P., Oller de Ramirez, A.M., Rautenberg, G., Becerra, A., Sims, K., Xin, W., Cismondi, I.A.

Publikováno v: Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC

Background: The Argentinean programwas initiatedmore than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses in the region. Subjects: 216

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::3cefc88face9f0189a14a223672fb4ab

ENFERMEDAD DE GAUCHER EN ARGENTINA UN INFORME DEL REGISTRO INTERNACIONAL DE GAUCHER Y DEL GRUPO ARGENTINO DE DIAGNÓSTICO Y TRATAMIENTO DE LA ENFERMEDAD DE GAUCHER

Autor: Drelichman G, Fernández, Escobar N, Basack N, Aversa L, Kohan R, Watman N, Bolesina M, Elena G, Veber SE, Dragosky M, Annetta I, Feliu A, Sciuccati G, Cuello MF, Fynn A, Dodelson de Kremer R, Angaroni CJ, Giner-Ayala AN, Oller de Ramirez A, Guelbert NB, Delgado MA, Becerra A, Oliveri B, Larroudé MS, Masllorens FM, Szlago M, Schenone AB

Publikováno v: Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC

La Enfermedad de Gaucher por su baja frecuencia está incluida dentro de las enfermedades huérfanas. En 1991 comenzó el ingreso de pacientes en el Registro Internacional de Gaucher. En 1992 se incorporaron los primeros dos pacientes de Latinoaméri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::7d9edca45c5f72f737645efa569b0b1d

Planning the human variome project: the Spain report

Autor: Peter J. Oefner, M. V. Golubenko, Jim Kaput, Judith Savige, Helmut Blöcer, Maurizio Genuardi, Toshio Kojima, Ming Qi, Paul Flicek, Vera Lúcia Gil-da-Silva-Lopes, Rodney J. Scott, Sandrine Laradi, Jon W. Teague, Ada Hamosh, María Jesús Sobrido, Mollie Ullman-Cullere, Joji Utsunomiya, Robert Hoffmann, Simon B. Flanagan, Lawrence Cavedon, Steven F. Dobrowolski, Ludwine Messiaen, Elizabeth A. Shephard, Giuditta Perozzi, Mireille Claustres, Sue Povey, Elizabeth Webb, Rolf H. Sijmons, Anne Cambon-Thomsen, Hyang Sook Yoo, Donna Maglott, Gabriela Möslein, Jongsun Jung, Toshihiro Tanaka, Jong Bhak, Yoichi Furukawa, Stacey L. Bleoo, Aida I. Al Aqeel, Mark H. Paalman, Timothy D. Smith, Makia J. Marafie, Jillian S. Parboosingh, Garry R. Cutting, M. Rosário N.Dos Santos, Ho Ghang, Daniela Seminara, Ana María Oller de Ramirez, Mariona Bustamante, Yeun Jun Chung, Carlos Díaz, Fahd Al-Mulla, Terence M. Harrison, John M. Hancock, Michael S. Watson, Rajkumar Ramesar, D. Scheible, Heather J. Howard, Mihai G. Netea, Marc S. Greenblatt, Ian Phillips, John Burn, Santos Alonso, Henk J van Kranen, George P. Patrinos, Carol Isaacson Barash, Suyash Prasad, Neskuts Izagirre, Ross C. Hardison, Inge Bernstein, Thomas K. Weber, Sean V. Tavtigian, Melissa L. Norton, Seon Hee Yim, Mauno Vihinen, Finlay A. Macrae, Rita Calzone, Richard G.H. Cotton, Meredith Yeager, C. Sue Richards, Yoichi Matsubara, Yoon Shin Cho, Arleen D. Auerbach, Johan T. den Dunnen, Young Ii Yeom, Jumana Y. Al-Aama, Raymond Dalgleish, Graham R. Taylor, Yeon Su Lee, Steven G.E. Marsh, Steven E. Brenner, James O'Leary, Rania Horaitis, Stefan Aretz, Bharati Bapat, David J. Quin, Lauren Hardman, Rosemary Ekong, William S. Oetting, Paola Carrera, Michele Cargill, Jong-Young Lee, Thoralf Töpel

Publikováno v: Human Mutation, 30, 496-510
Human Mutation, 30, 4, pp. 496-510

Contains fulltext : 81952.pdf (Publisher’s version ) (Closed access) The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3634df92404d67dce51dc417d3d0468a
https://doi.org/10.1002/humu.20972

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

Autor: Frida E. Kleiman, Roy A. Gravel, Ana María Oller de Ramirez, Carlos E. Argaraña, Raquel Dodelson de Kremer

Publikováno v: Human genetics. 94(3)

The level of beta-hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were studied in an Argentinean deme with high incidence of infantile Sandhoff disease. Two mutations were previously identified in one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd704b9216120c23035ff66f558320b
https://pubmed.ncbi.nlm.nih.gov/8076944