Zobrazeno 1 - 10
of 250
pro vyhledávání: '"Vellodi Ashok"'
Autor:
Sykora Karl-Walter, Rovelli Attilio, Parini Rossella, O'Meara Anne, Offringa Martin, Mengel Eugen, Mahlaoui Nizar, van der Lee Johanna H, Jones Simon A, Das Anibh M, Boelens Jaap J, de Ru Minke H, Valayannopoulos Vassili, Vellodi Ashok, Wynn Robert F, Wijburg Frits A
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 55 (2011)
Abstract Background Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the sever
Externí odkaz:
https://doaj.org/article/73eec508920d4c6cab42f0e2439cb6cd
Autor:
El-Beshlawy, Amal, Tylki-Szymanska, Anna, Vellodi, Ashok, Belmatoug, Nadia, Grabowski, Gregory A., Kolodny, Edwin H., Batista, Julie L., Cox, Gerald F., Mistry, Pramod K.
Publikováno v:
In Molecular Genetics and Metabolism January-February 2017 120(1-2):47-56
Autor:
Harmatz, Paul R., Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John J., Martins, Ana Maria, Jones, Simon A., Guelbert, Norberto, Vellodi, Ashok, Wijburg, Frits A., Yang, Ke, Slasor, Peter, Decker, Celeste
Publikováno v:
In Molecular Genetics and Metabolism February 2015 114(2):186-194
Autor:
Harmatz, Paul, Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John, Martins, Ana, Jones, Simon, Guelbert, Norberto, Vellodi, Ashok, Hollak, Carla, Slasor, Peter, Decker, Celeste
Publikováno v:
In Molecular Genetics and Metabolism May 2013 109(1):54-61
Autor:
Donald, Aimee, Björkvall, Cecilia Kämpe, Vellodi, Ashok, GAUCHERITE Consortium, Cox, Timothy M, Hughes, Derralyn, Jones, Simon A, Wynn, Robert, Machaczka, Maciej
Funder: Medical Research Council; doi: http://dx.doi.org/10.13039/501100000265
BACKGROUND: Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with invo
BACKGROUND: Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with invo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742674db959cb4325426cdd4728d1eea
Autor:
Muenzer, Joseph *, Beck, Michael, Eng, Christine M., Giugliani, Roberto, Harmatz, Paul, Martin, Rick, Ramaswami, Uma, Vellodi, Ashok, Wraith, James E., Cleary, Maureen, Gucsavas-Calikoglu, Muge, Puga, Ana Cristina, Shinawi, Marwan, Ulbrich, Birgit, Vijayaraghavan, Suresh, Wendt, Susanne, Conway, Anne Marie, Rossi, Alexandra, Whiteman, David A.H., Kimura, Alan
Publikováno v:
In Genetics in Medicine February 2011 13(2):95-101
Autor:
Muenzer, Joseph *, Beck, Michael, Giugliani, Roberto, Suzuki, Yasuyuki, Tylki-Szymanska, Anna, Valayannopoulos, Vassili, Vellodi, Ashok, Wraith, James E.
Publikováno v:
In Genetics in Medicine February 2011 13(2):102-109
Autor:
Beesley, Clare E., Young, Elisabeth P., Finnegan, Niamh, Jackson, Marie, Mills, Kevin, Vellodi, Ashok, Cleary, Maureen, Winchester, Bryan G.
Publikováno v:
In Molecular Genetics and Metabolism April 2009 96(4):218-224
Autor:
Wraith, J. Edmond, Tylki-Szymanska, Anna, Guffon, Nathalie, Lien, Y. Howard, Tsimaratos, Michel, Vellodi, Ashok, Germain, Dominique P.
Publikováno v:
In The Journal of Pediatrics April 2008 152(4):563-570
Autor:
Guerrini, Matteo M., Sobacchi, Cristina, Cassani, Barbara, Abinun, Mario, Kilic, Sara S., Pangrazio, Alessandra, Moratto, Daniele, Mazzolari, Evelina, Clayton-Smith, Jill, Orchard, Paul, Coxon, Fraser P., Helfrich, Miep H., Crockett, Julie C., Mellis, David, Vellodi, Ashok, Tezcan, Ilhan, Notarangelo, Luigi D., Rogers, Michael J., Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa
Publikováno v:
In The American Journal of Human Genetics 2008 83(1):64-76