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

Year Number of Results
1991 1
1993 1
1998 1
2000 1
2001 1
2004 1
2005 1
2006 1
2008 2
2009 1
2010 2
2011 4
2012 3
2013 2
2014 2
2015 3
2016 4
2017 8
2018 7
2019 9
2020 5
2021 6
2022 11
2023 2
2024 2

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74 results

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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: martin hernandez e. 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.
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.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Bélanger-Quintana A, Arrieta Blanco F, Barrio-Carreras D, Bergua Martínez A, Cañedo Villarroya E, García-Silva MT, Lama More R, Martín-Hernández E, López AM, Morales-Conejo M, Pedrón-Giner C, Quijada-Fraile P, Stanescu S, Casanova MM. Bélanger-Quintana A, et al. Among authors: martin hernandez e. Nutrients. 2022 Jul 2;14(13):2755. doi: 10.3390/nu14132755. Nutrients. 2022. PMID: 35807935 Free PMC article. 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: martin hernandez e. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.
Navarro-Abia V, Soriano-Ramos M, Núñez-Enamorado N, Camacho-Salas A, Martinez-de Aragón A, Martín-Hernández E, Simón-de Las Heras R. Navarro-Abia V, et al. Among authors: martin hernandez e. Brain Dev. 2018 Apr;40(4):348-352. doi: 10.1016/j.braindev.2017.12.005. Epub 2017 Dec 30. Brain Dev. 2018. PMID: 29295802 Review.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Domínguez-González C, et al. Among authors: martin hernandez e. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17. Ann Neurol. 2019. PMID: 31125140 Free PMC article.
Perioperative management of children with urea cycle disorders.
Del Río C, Martín-Hernández E, Ruiz A, Quijada-Fraile P, Rubio P. Del Río C, et al. Among authors: martin hernandez e. Paediatr Anaesth. 2020 Jul;30(7):780-791. doi: 10.1111/pan.13905. Epub 2020 May 25. Paediatr Anaesth. 2020. PMID: 32375202
ADAM: A web platform for graph-based modeling and optimization of supply chains.
Hu Y, Zhang W, Tominac P, Shen M, Gorëke D, Martín-Hernández E, Martín M, Ruiz-Mercado GJ, Zavala VM. Hu Y, et al. Among authors: martin hernandez e. Comput Chem Eng. 2022 Sep;165:107911. doi: 10.1016/j.compchemeng.2022.107911. Comput Chem Eng. 2022. PMID: 36311459 Free PMC article.
74 results