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

Year Number of Results
1984 1
1992 2
1994 2
1998 3
1999 2
2000 2
2001 2
2002 1
2003 3
2004 3
2005 1
2006 1
2009 4
2010 4
2011 1
2012 3
2013 1
2014 4
2015 1
2016 8
2017 4
2018 3
2019 4
2022 3
2023 4
2024 2

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64 results

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Page 1
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: rodriguez pombo p. 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.
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: rodriguez pombo p. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
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: rodriguez pombo p. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
Musokhranova U, Grau C, Vergara C, Rodríguez-Pascau L, Xiol C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, García-Cazorla A, Oyarzábal A. Musokhranova U, et al. Among authors: rodriguez pombo p. J Transl Med. 2023 Oct 26;21(1):756. doi: 10.1186/s12967-023-04622-5. J Transl Med. 2023. PMID: 37884937 Free PMC article.
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: rodriguez pombo p. Expert Rev Neurother. 2016 Jul;16(7):755-63. doi: 10.1080/14737175.2016.1187562. Epub 2016 May 23. Expert Rev Neurother. 2016. PMID: 27191787 Review.
An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.
Herrero Martín JC, Salegi Ansa B, Álvarez-Rivera G, Domínguez-Zorita S, Rodríguez-Pombo P, Pérez B, Calvo E, Paradela A, Miguez DG, Cifuentes A, Cuezva JM, Formentini L. Herrero Martín JC, et al. Among authors: rodriguez pombo p. Nat Metab. 2024 Feb;6(2):209-225. doi: 10.1038/s42255-023-00956-y. Epub 2024 Jan 19. Nat Metab. 2024. PMID: 38243131 Free PMC article.
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
Stanescu S, Bravo-Alonso I, Belanger-Quintana A, Pérez B, Medina-Diaz M, Ruiz-Sala P, Flores NP, Buenache R, Arrieta F, Rodríguez-Pombo P. Stanescu S, et al. Among authors: rodriguez pombo p. Orphanet J Rare Dis. 2022 Jun 21;17(1):243. doi: 10.1186/s13023-022-02389-4. Orphanet J Rare Dis. 2022. PMID: 35729663 Free PMC article. Review.
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA. Ugarte M, et al. Among authors: rodriguez pombo p. Hum Mutat. 1999;14(4):275-82. doi: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N. Hum Mutat. 1999. PMID: 10502773 Review.
64 results