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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 3
2006 5
2007 5
2008 6
2009 2
2010 5
2011 9
2012 4
2013 6
2014 4
2015 4
2016 4
2017 2
2018 5
2019 4
2020 3
2021 3
2022 3
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

77 results

Results by year

Filters applied: . Clear all
Page 1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Among authors: ormazabal a. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
Can folic acid have a role in mitochondrial disorders?
Ormazabal A, Casado M, Molero-Luis M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S, Artuch R. Ormazabal A, et al. Drug Discov Today. 2015 Nov;20(11):1349-54. doi: 10.1016/j.drudis.2015.07.002. Epub 2015 Jul 14. Drug Discov Today. 2015. PMID: 26183769 Review.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: ormazabal a. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á. Cassis L, et al. Among authors: ormazabal a. Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Orphanet J Rare Dis. 2015. PMID: 26714856 Free PMC article. Review.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
Oliva C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez-Gonzalez H, Jou C, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: ormazabal a. J Chromatogr B Analyt Technol Biomed Life Sci. 2023 Jul 15;1226:123787. doi: 10.1016/j.jchromb.2023.123787. Epub 2023 Jun 10. J Chromatogr B Analyt Technol Biomed Life Sci. 2023. PMID: 37327517
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.
Molero-Luis M, Casas-Alba D, Orellana G, Ormazabal A, Sierra C, Oliva C, Valls A, Velasco J, Launes C, Cuadras D, Pérez-Dueñas B, Jordan I, Cambra FJ, Ortigoza-Escobar JD, Muñoz-Almagro C, Garcia-Cazorla A, Armangué T, Artuch R. Molero-Luis M, et al. Among authors: ormazabal a. Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z. Sci Rep. 2020. PMID: 33106568 Free PMC article.
77 results