Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Isidro Arevalo"'
Autor:
Alfredo Uribe PhD, Adis Ayala MSc, Monica España MSc, Isidro Arevalo MSc, Natalia Pacheco MSc, Lina M. Jay Garcia MSc
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis
Externí odkaz:
https://doaj.org/article/ddb6b12674154118a6ccffbf67a56f56
Publikováno v:
Iatreia, Vol 23, Iss 4-S (2010)
La literatura mundial ha reportado más de 100 enfermedades neurodegenerativas relacionadas con errores innatos del metabolismo que presentan un amplia expresión fenotípica, una de ellas es la enfermedad de Krabbe (EK), desorden genético autosómi
Externí odkaz:
https://doaj.org/article/e5e5d36c670649de8d936e579e3e8fed
Autor:
Marcio M Andrade-Campos, Esther Valero-Tena, Jose Verdu-Diaz, Jordi Diaz-Manera, Isidro Arevalo-Vargas, Irene Serrano-Gonzalo, Mercedes Roca-Espiau, Pilar Giraldo
Publikováno v:
Blood. 140:2605-2606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5015fbf9b30b3200a5924f5e6d1ecb6
https://doi.org/10.1182/blood-2022-158444
https://doi.org/10.1182/blood-2022-158444
Autor:
Pilar Giraldo, Esther Valero-Tena, José Verdú-Díaz, Jordi Diaz Manera, Isidro Arevalo-Vargas, Irene Serrano Gonzalo, Ralf Köhler, Maria M. Roca-Espiau, Marcio Andrade-Campos
Publikováno v:
Molecular Genetics and Metabolism. 138:107114
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3accbc15a0611b84faf5b25b934264e
https://doi.org/10.1016/j.ymgme.2022.107114
https://doi.org/10.1016/j.ymgme.2022.107114
Autor:
Isidro Arevalo-Vargas, Irene Serrano-Gonzalo, Carlos Lahoz, Pilar Mozas, Laura López de Frutos, Pilar Giraldo
Publikováno v:
Molecular Genetics and Metabolism. 135:S18-S19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e1698a112614487f85b5211e8346eed
https://doi.org/10.1016/j.ymgme.2021.11.027
https://doi.org/10.1016/j.ymgme.2021.11.027
Autor:
Irene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos, María Ángeles Fernández-Galán, Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga, Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz, Patricia Correcher-Medina, Luis Javier García-Frade, Jesús María Hernández-Rivas, Francesca Labbadia, Jesus Miguel López-Dupla, María Luisa Lozano-Almela, Elvira Mora-Casterá, María Soledad Noya-Pereira, María Ángeles Ruíz-Guinaldo, María del Mar Tormo-Díaz, Isidro Vitoria-Miñana, Isidro Arévalo-Vargas, Marcio Andrade-Campos, Pilar Giraldo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized the
Externí odkaz:
https://doaj.org/article/117cc15479cb4170b8e7211100fa9146
Publikováno v:
HemaSphere, Vol 7, p e91505f3 (2023)
Externí odkaz:
https://doaj.org/article/736a34ff7a65432d9771f70f6fbe6226
Autor:
Irene Serrano-Gonzalo, Bárbara Menéndez-Jandula, Isidro Arévalo-Vargas, Ester Franco-García, Carlos Lahoz, Paz Latre, Laura López de Frutos, Ralf Köhler, Pilar Giraldo
Publikováno v:
HemaSphere, Vol 7, p e192464f (2023)
Externí odkaz:
https://doaj.org/article/dc1b0316be1d4093bb1c088cca1429c3
Autor:
Isidro Arevalo, Adis Ayala, Natalia Pacheco, Lina Manuela Jay Garcia, Monica España, Alfredo Uribe
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening v.3 2015
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645533543a258df816ab1305962fb50b
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100353
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100353
