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Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
dc.contributor.author | Couce Pico, María Luz | |
dc.date.accessioned | 2017-06-07T07:34:45Z | |
dc.date.available | 2017-06-07T07:34:45Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1750-1172 | |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/8164 | |
dc.language.iso | eng | |
dc.title | Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes | |
dc.type | Artigo | es |
dc.authorsophos | Chien, Y. H. | |
dc.authorsophos | Abdenur, J. E. | |
dc.authorsophos | Baronio, F. | |
dc.authorsophos | Bannick, A. A. | |
dc.authorsophos | Corrales, F. | |
dc.authorsophos | Couce, M. | |
dc.authorsophos | Donner, M. G. | |
dc.authorsophos | Ficicioglu, C. | |
dc.authorsophos | Freehauf, C. | |
dc.authorsophos | Frithiof, D. | |
dc.authorsophos | Gotway, G. | |
dc.authorsophos | Hirabayashi, K. | |
dc.authorsophos | Hofstede, F. | |
dc.authorsophos | Hoganson, G. | |
dc.authorsophos | Hwu, W. L. | |
dc.authorsophos | James, P. | |
dc.authorsophos | Kim, S. | |
dc.authorsophos | Korman, S. H. | |
dc.authorsophos | Lachmann, R. | |
dc.authorsophos | Levy, H. | |
dc.authorsophos | Lindner, M. | |
dc.authorsophos | Lykopoulou, L. | |
dc.authorsophos | Mayatepek, E. | |
dc.authorsophos | Muntau, A. | |
dc.authorsophos | Okano, Y. | |
dc.authorsophos | Raymond, K. | |
dc.authorsophos | Rubio-Gozalbo, E. | |
dc.authorsophos | Scholl-Bürgi, S. | |
dc.authorsophos | Schulze, A. | |
dc.authorsophos | Singh, R. | |
dc.authorsophos | Stabler, S. | |
dc.authorsophos | Stuy, M. | |
dc.authorsophos | Thomas, J. | |
dc.authorsophos | Wagner, C. | |
dc.authorsophos | Wilson, W. G. | |
dc.authorsophos | Wortmann, S. | |
dc.authorsophos | Yamamoto, S. | |
dc.authorsophos | Pao, M. | |
dc.authorsophos | Blom, H. J. | |
dc.identifier.doi | 10.1186/s13023-015-0321-y | |
dc.identifier.isi | 359734000002 | |
dc.identifier.pmid | 26289392 | |
dc.identifier.sophos | 19509 | |
dc.issue.number | 1 | |
dc.journal.title | Orphanet Journal of Rare Diseases | |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría | |
dc.rights.accessRights | openAccess | |
dc.typesophos | Artículo Original | |
dc.volume.number | 10 |
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