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Newborn screening-progress and challenges.
Hoffmann GF, Cornejo V, Pollitt RJ. Hoffmann GF, et al. Among authors: cornejo v. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S199-200. doi: 10.1007/s10545-010-9191-6. J Inherit Metab Dis. 2010. PMID: 20835763 No abstract available.
Past, present and future of newborn screening in Chile.
Cornejo V, Raimann E, Cabello JF, Valiente A, Becerra C, Opazo M, Colombo M. Cornejo V, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S301-6. doi: 10.1007/s10545-010-9165-8. Epub 2010 Aug 4. J Inherit Metab Dis. 2010. PMID: 20683669
Propionic acidaemia: two cases in Chile.
Raimann E, Cornejo V, Perales CG, Colombo M. Raimann E, et al. Among authors: cornejo v. J Inherit Metab Dis. 1990;13(2):237. doi: 10.1007/BF01799696. J Inherit Metab Dis. 1990. PMID: 2116559 No abstract available.
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. Among authors: cornejo v. 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
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: cornejo v. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
70 results