Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

80 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C. Martín-Hernández E, et al. Among authors: pena quintana lj. Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4. Orphanet J Rare Dis. 2014. PMID: 25433810 Free PMC article.
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
[Epidemiological study of the metabolic diseases with homocystinuria in Spain].
García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, García-Cazorla A, Gómez-López L, Giner CP, Luengo OA, Peña Quintana L, Couce ML, Martínez-Pardo M, Lambruschini N. García-Jiménez MC, et al. An Pediatr (Barc). 2012 Mar;76(3):133-9. doi: 10.1016/j.anpedi.2011.08.008. Epub 2011 Nov 1. An Pediatr (Barc). 2012. PMID: 22047794 Free article. Spanish.
Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.
Pedrón-Giner C, Navas-López VM, Martínez-Zazo AB, Martínez-Costa C, Sánchez-Valverde F, Blasco-Alonso J, Moreno-Villares JM, Redecillas-Ferreiro S, Canals-Badía MJ, Rosell-Camps A, Gil-Ortega D, Gómez-López L, García-Romero R, Gutierrez-Junquera C, Balmaseda-Serrano EM, Bousoño-García C, Marugán-Miguelsanz JM, Peña-Quintana L, González-Santana D, López-Ruzafa E, Chicano-Marín FJ, Cabrera-Rodriguez R, Murray-Hurtado M, Pérez-Moneo B. Pedrón-Giner C, et al. Eur J Clin Nutr. 2013 Apr;67(4):318-23. doi: 10.1038/ejcn.2013.8. Epub 2013 Feb 6. Eur J Clin Nutr. 2013. PMID: 23388671
[Nutrition status on pediatric admissions in Spanish hospitals; DHOSPE study].
Moreno Villares JM, Varea Calderón V, Bousoño García C, Lama Moré R, Redecillas Ferreiro S, Peña Quintana L; Sociedad Española de Gastroenterología. Moreno Villares JM, et al. Nutr Hosp. 2013 May-Jun;28(3):709-18. doi: 10.3305/nh.2013.28.3.6356. Nutr Hosp. 2013. PMID: 23848094 Free article. Spanish.
Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.
Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Peña-Quintana L, Ruiz MA, González D, Sánchez-Valverde F. Aldámiz-Echevarría L, et al. Clin Nutr. 2014 Aug;33(4):702-17. doi: 10.1016/j.clnu.2013.09.011. Epub 2013 Sep 26. Clin Nutr. 2014. PMID: 24120886
80 results