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

Year Number of Results
1970 1
1973 2
1976 1
1977 2
1980 5
1981 4
1982 8
1984 3
1985 3
1989 2
1990 1
1991 1
1992 7
1993 3
1994 4
1995 4
1996 5
1997 7
1998 9
1999 11
2000 10
2001 12
2002 8
2003 9
2004 12
2005 14
2006 15
2007 12
2008 10
2009 16
2010 13
2011 13
2012 16
2013 21
2014 22
2015 10
2016 12
2017 15
2018 17
2019 12
2020 9
2021 8
2022 12
2023 8
2024 2

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351 results

Results by year

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Page 1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. Among authors: ugarte m. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: ugarte m. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913 Free article.
Protein misfolding diseases: Prospects of pharmacological treatment.
Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Gámez A, et al. Among authors: ugarte m. Clin Genet. 2018 Mar;93(3):450-458. doi: 10.1111/cge.13088. Epub 2017 Dec 4. Clin Genet. 2018. PMID: 28671287 Review.
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Among authors: ugarte m. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
"Metamorphopsia" assessment.
Ugarte M, Williamson TH. Ugarte M, et al. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6894-5; author reply 6895. doi: 10.1167/iovs.10-5483. Invest Ophthalmol Vis Sci. 2010. PMID: 21123779 No abstract available.
Zinc in the retina.
Ugarte M, Osborne NN. Ugarte M, et al. Prog Neurobiol. 2001 Jun;64(3):219-49. doi: 10.1016/s0301-0082(00)00057-5. Prog Neurobiol. 2001. PMID: 11240307 Review.
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
László A, Rózsa M, Sallay E, Tiszlavicz L, Janovszky A, Várkonyi A, Karg E, Wittmann G, Túri S, Ugarte M. László A, et al. Among authors: ugarte m. Ideggyogy Sz. 2013 Nov 30;66(11-12):415-9. Ideggyogy Sz. 2013. PMID: 24555242
351 results