[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]

Autor: Paula, Sánchez Pintos, José Ángel, Cocho de Juan, M Dolores, Bóveda Fontán, Daisy E, Castiñeiras Ramos, Cristóbal, Colón Mejeras, Agustin Javier, Iglesias Rodríguez, María José, de Castro López, José Ramón, Alonso Fernández, José María, Fraga Bermúdez, María Luz, Couce Pico

Publikováno v: Revista espanola de salud publica. 94

Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass spectrometry in July 2000. As a primary objective, 28 dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::60b6bad1478152fb4a580c337a1f6ac1
https://pubmed.ncbi.nlm.nih.gov/33323918

LINCE project: A fast diagnosis of CLN2 disease

Autor: María Luz Couce Pico, Pablo Crujeiras, Daniel C. Rodrigues, Cristóbal Colón Mejeras, José A. Cocho

Publikováno v: Molecular Genetics and Metabolism. 129:S44

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b19a0f405f0674a88b044e5f28440904
https://doi.org/10.1016/j.ymgme.2019.11.093

Manual clínico del cribado metabólico

Autor: Luis Aldámiz-Echevarría, Domingo González-Lamuño Leguina, María Luz Couce Pico

Actualmente todos los ninos se benefician de una exploracion de salud que se lleva a cabo en los primeros dias de vida mediante la llamada prueba del talon o cribado metabolico neonatal. Muy a menudo los pediatras, otros especialistas y todo el perso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7b390e5f20814ea23c1c11fcfc1b0801
https://doi.org/10.15304/9788416954681

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Autor: Peter Freisinger, Corinne De Laet, Jiri Zeman, Nuria Garcia Segarra, Sebene Mayorandan, Dorothea Moeslinger, Johannes Sander, J. F. Jordan, Ute Spiekerkoetter, Matthias Gautschi, José Angel Cocho de Juan, Arndt Vogel, Francjan J. van Spronsen, Sabine Scholl-Bürgi, María Luz Couce Pico, U. Meyer, Jessica Endig, Arianna Maiorana, Hélène Ogier de Baulny, Gülden Gökçay, René Santer, Susanne Morlot, Eva Thimm, Michaela Brunner-Krainz, Yngve Thomas Bliksrud, Patrick J. McKiernan, Luis Aldámiz-Echevarría, Carlo Dionisi-Vici, Michel Hochuli, Amelie S. Lotz-Havla, Stefanie Ernst, Hanna Mandel, Anibh M. Das

Publikováno v: Orphanet journal of rare diseases, 9 (1
Orphanet journal of rare diseases, 9:107. BMC
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7
Orphanet Journal of Rare Diseases

Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec3e2d9a006e17ad87b0635a99a276c7
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/192464

Knee Dislocation in the Delivery Room

Autor: María Luz Couce Pico, Alejandro Pérez Muñuzuri, María José de Castro López, Olalla López Suárez, Alicia Iglesias Deus, Adriana Rodriguez Vidal

Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ff2294942022dca25c3ef937d7b0cf9
https://doi.org/10.1016/j.jpeds.2014.05.035