Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Hada C, Macher"'
Autor:
Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic varia
Externí odkaz:
https://doaj.org/article/5249bd137dc243e5939c2dcaabf1b844
Autor:
José D. Santotoribio, Esperanza Lepe Balsalobre, Irene Alonso Pérez, Andrea Campo Barasoain, Hada C. Macher
Publikováno v:
Anales de Pediatría, Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://doaj.org/article/485d60eb827e4c28860c6ce8d2a72956
Autor:
José D. Santotoribio, Esperanza Lepe-Balsalobre, Irene Alonso-Pérez, Andrea Campo-Barasoain, Hada C. Macher
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://doaj.org/article/a86c519c652549308639447ae61551ce
Publikováno v:
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4:28-39
Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99e01829f5eeb8c7747b052a4cfeb5a0
https://doi.org/10.1515/almed-2023-0024
https://doi.org/10.1515/almed-2023-0024
Publikováno v:
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4:40-51
Resumen El diagnóstico genético prenatal de enfermedades monogénicas es un proceso que engloba el conjunto de técnicas moleculares dirigidas a caracterizar molecularmente una posible enfermedad monogénica en el feto durante el embarazo. Actualme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a796f60ed1eb38f05efc6014461cc95d
https://doi.org/10.1515/almed-2022-0086
https://doi.org/10.1515/almed-2022-0086
Autor:
Jose D Santotoribio, Salvador García-Morillo, Hernández-Arévalo Paula, Hada C. Macher, Juan M. Guerrero, Pilar Jiménez-Arriscado, Antonio González-Meneses, Rocío Delarosa-Rodríguez
Publikováno v:
Clinical Genetics. 99:761-771
The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD) in males and females and to compare the diagnostic role of α-galactosidase A activity (α-G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a41f26898806aa75f0f2dbd852374b1d
https://doi.org/10.1111/cge.13936
https://doi.org/10.1111/cge.13936
Autor:
Esperanza Lepe-Balsalobre, Jose D Santotoribio, Irene Alonso-Pérez, Hada C. Macher, Andrea Campo-Barasoain
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::431ed63ca37af2924025a4e0b9d032b0
http://www.sciencedirect.com/science/article/pii/S2341287921001149
http://www.sciencedirect.com/science/article/pii/S2341287921001149
Autor:
Esperanza Lepe Balsalobre, Irene Alonso Pérez, Jose D Santotoribio, Hada C. Macher, Andrea Campo Barasoain
Publikováno v:
Anales de Pediatría, Vol 95, Iss 2, Pp 116-118 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2323f23da1b0e407739d8abed416524
http://www.sciencedirect.com/science/article/pii/S1695403320302010
http://www.sciencedirect.com/science/article/pii/S1695403320302010
Autor:
Alejandro Bustamante, Fernando Mancha, Hada C Macher, Teresa García-Berrocoso, Dolors Giralt, Marc Ribó, Juan M Guerrero, Joan Montaner
Publikováno v:
Journal of Circulating Biomarkers, Vol 5 (2016)
Circulating cell-free DNA (cfDNA) has been described as a prognostic marker for several diseases. Its prognostic value for short-term outcome in stroke patients treated with intravenous thrombolysis remains unexplored. cfDNA was measured on admission
Externí odkaz:
https://doaj.org/article/a74fbecbed494df48f2cbea527bc45a1
Autor:
Javier Padillo-Ruiz, Gonzalo Suarez, Sheila Pereira, Francisco José Calero-Castro, Jose Tinoco, Luis Marin, Carmen Bernal, Carmen Cepeda-Franco, Jose Maria Alamo, Francisco Almoguera, Hada C. Macher, Paula Villanueva, Francisco José García-Fernandez, Inmaculada Gallego, Manuel Romero, Miguel Angel Gomez-Bravo, Valeria Denninghoff, María José Serrano
Publikováno v:
Cancers
Cancers, Vol 13, Iss 6153, p 6153 (2021)
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Cancers; Volume 13; Issue 24; Pages: 6153
Digital.CSIC. Repositorio Institucional del CSIC
Cancers, Vol 13, Iss 6153, p 6153 (2021)
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Cancers; Volume 13; Issue 24; Pages: 6153
Digital.CSIC. Repositorio Institucional del CSIC
[Simple Summary] Effective biomarkers are needed to enable personalized medicine for pancreatic cancer patients. This study analyzes the prognostic value, in early pancreatic cancer, of circulating tumor cells and clusters from the central venous cat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c071e954c8c46df11c017f26030efb
https://pubmed.ncbi.nlm.nih.gov/34944773
https://pubmed.ncbi.nlm.nih.gov/34944773