Zobrazeno 1 - 10
of 191
pro vyhledávání: '"María L. Couce"'
Autor:
María L. Couce, María-Dolores Bóveda, Daisy E. Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia, María-José De Castro, Agustin J. Iglesias-Rodríguez, Cristóbal Colón, José A. Cocho, Paula Sánchez
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate
Externí odkaz:
https://doaj.org/article/958891f4db4a44cb8d5c1d76502f420d
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
María E. Vázquez-Mosquera, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Diego Bellido-Guerrero, Cristina Tejera-Pérez, Miguel A. Martinez-Olmos, Antía Fernández-Pombo, Luis A. Castaño-González, Roi Chans-Gerpe, María L. Couce
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a positive genetic diagnosis is achieved in only around 50% of patients with c
Externí odkaz:
https://doaj.org/article/799d5da6e7f44dd38a38cce541be7f1f
Autor:
Adela Urisarri, Ismael González-García, Ánxela Estévez-Salguero, María P. Pata, Edward Milbank, Noemi López, Natalia Mandiá, Carmen Grijota-Martinez, Carlos A. Salgado, Rubén Nogueiras, Carlos Diéguez, Francesc Villarroya, José-Manuel Fernández-Real, María L. Couce, Miguel López
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Brown adipose tissue (BAT) in infants has been studied for more than a century, however, the knowledge about its physiological features is limited. Here, the authors investigate the link between BAT thermogenesis and the regulation of temperature in
Externí odkaz:
https://doaj.org/article/9c87bc0e5082453f916c0c517da20602
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/6df56c00aabe42bb963ea64b1a61b92f
Autor:
María L. Couce
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/a2a21decd1e04a76b3c7ae84b4e98d2b
Autor:
Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce, Luís Aldámiz-Echevarría
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome. Poor trea
Externí odkaz:
https://doaj.org/article/4b8e1cd98f7c4473add6b40105ef51d1
Autor:
Hector Boix, María Dolores Sánchez-Redondo, María Cernada, María Gracia Espinosa Fernández, Noelia González-Pacheco, Ana Martín, Alejandro Pérez-Muñuzuri, María L. Couce
Publikováno v:
Anales de Pediatría, Vol 97, Iss 1, Pp 60.e1-60.e8 (2022)
Resumen: La escasa evidencia sobre el uso de las transfusiones en neonatología explica las limitaciones de las guías clínicas actuales. A pesar de ello, en este documento analizamos la evidencia más reciente para hacer unas recomendaciones para l
Externí odkaz:
https://doaj.org/article/56fb62a788224659be02b3cdde5cd31b
Autor:
Hector Boix, María Dolores Sánchez-Redondo, María Cernada, María Gracia Espinosa Fernández, Noelia González-Pacheco, Ana Martín, Alejandro Pérez-Muñuzuri, María L. Couce
Publikováno v:
Anales de Pediatría (English Edition), Vol 97, Iss 1, Pp 60.e1-60.e8 (2022)
The scant evidence on the use of transfusions in neonatal care explains the limitations of current clinical guidelines. Despite this, in this document we explore the most recent evidence to make recommendations for the clinical practice. The preventi
Externí odkaz:
https://doaj.org/article/a624ac5c2cc84976b94394162d7c2d65
Autor:
Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, Cristóbal Colón
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal e
Externí odkaz:
https://doaj.org/article/d3c8bcd8eec841d0b9ab74134019f7df