Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maria Luz Couce-Pico"'
Autor:
Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 450-460 (2024)
Abstract Arginase 1 deficiency (ARG1‐D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1‐D by perfo
Externí odkaz:
https://doaj.org/article/75e89c23a1d74a5e915f5192fa93b4ec
Autor:
Alejandro Pérez-Muñuzuri, Maria Luz Couce-Pico, Ana Baña-Souto, Olalla López-Suárez, Alicia Iglesias-Deus, José Blanco-Teijeiro, José Ramón Fernández-Lorenzo, José María Fraga-Bermúdez
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88781 (2014)
Following current recommendations for preventing retinopathy of prematurity (ROP) involves screening a large number of patients. We performed a prospective study to establish a useful screening system for ROP prediction and we have determined that me
Externí odkaz:
https://doaj.org/article/032ba636318a4fd29af918ca0203206a
Autor:
David F. Rodriguez-Buritica, Ayesha Ahmad, Maria-Luz Couce Pico, Terry G. Derks, John Mitchell, Rebecca Riba-Wolman, David A. Weinstein, Connie Lee, Vassili Valayannopoulos, Eric Crombez
Publikováno v:
Molecular Genetics and Metabolism. 135:296
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dccd60467ea2104f09f2cbac7d948b22
https://doi.org/10.1016/j.ymgme.2022.01.081
https://doi.org/10.1016/j.ymgme.2022.01.081
Autor:
Patricia P, Jumbo-Lucioni, Kathryn, Garber, John, Kiel, Ivo, Baric, Gerard T, Berry, Annet, Bosch, Alberto, Burlina, Ana, Chiesa, Maria Luz Couce, Pico, Sylvia C, Estrada, Howard, Henderson, Nancy, Leslie, Nicola, Longo, Andrew A M, Morris, Carlett, Ramirez-Farias, Susanne, Schweitzer-Krantz, Susanne, Scheweitzer-Krantz, Catherine Lynn T, Silao, Marcela, Vela-Amieva, Susan, Waisbren, Judith L, Fridovich-Keil
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Journal of inherited metabolic disease, 35(6), 1037-1049. Springer Netherlands
Servizo Galego de Saúde (SERGAS)
Journal of inherited metabolic disease, 35(6), 1037-1049. Springer Netherlands
Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ff5890fb28d66866fe02e337067206
https://hdl.handle.net/11577/3472824
https://hdl.handle.net/11577/3472824
Autor:
Alberto Burlina, Judith L. Fridovich-Keil, Nancy D. Leslie, Sylvia C. Estrada, Annet M. Bosch, Gerard T. Berry, Kathryn B. Garber, Maria Luz Couce Pico, Ana Chiesa, Nicola Longo, Catherine Lynn T. Silao, Ivo Barić, A. A. M. Morris, Susan E. Waisbren, Susanne Schweitzer-Krantz, Marcela Vela-Amieva, John Kiel, Howard E. Henderson, Patricia Jumbo-Lucioni, Carlett Ramirez-Farias
Publikováno v:
Journal of Inherited Metabolic Disease. 35:1157-1157
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abb99ef303e198798f4ce1f34d1b6ee8
https://doi.org/10.1007/s10545-012-9516-8
https://doi.org/10.1007/s10545-012-9516-8