Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ana María Oller de Ramirez"'
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
Autor:
Cyntia Anabel Amorosi, Stephan Kemp, Raquel Dodelson de Kremer, Ana María Oller de Ramirez, Carlos E. Argaraña, Masashi Morita, Mariela R. Monti, Lenka Dvorakova, Helena Myskóva
Publikováno v:
PLoS ONE
PLoS ONE, 7(12). Public Library of Science
PLoS ONE, Vol 7, Iss 12, p e52635 (2012)
PLoS ONE, 7(12). Public Library of Science
PLoS ONE, Vol 7, Iss 12, p e52635 (2012)
X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f02611b8ec4bfef445cbe9cd14a3d3
http://europepmc.org/articles/PMC3534082
http://europepmc.org/articles/PMC3534082
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
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
https://doi.org/10.1002/humu.20972
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
https://pubmed.ncbi.nlm.nih.gov/8076944