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Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Ferreira F, Azevedo L, Neiva R, Sousa C, Fonseca H, Marcão A, Rocha H, Carmona C, Ramos S, Bandeira A, Martins E, Campos T, Rodrigues E, Garcia P, Diogo L, Ferreira AC, Sequeira S, Silva F, Rodrigues L, Gaspar A, Janeiro P, Amorim A, Vilarinho L. Ferreira F, et al. Among authors: diogo l. Mol Genet Genomic Med. 2021 Mar;9(3):e1559. doi: 10.1002/mgg3.1559. Epub 2021 Jan 19. Mol Genet Genomic Med. 2021. PMID: 33465300 Free PMC article.
Outcome of three cases of untreated maternal glutaric aciduria type I.
Garcia P, Martins E, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Garcia P, et al. Among authors: diogo l. Eur J Pediatr. 2008 May;167(5):569-73. doi: 10.1007/s00431-007-0556-2. Epub 2007 Jul 28. Eur J Pediatr. 2008. PMID: 17661081
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Couce ML, et al. Among authors: diogo l. Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102. Orphanet J Rare Dis. 2013. PMID: 23842438 Free PMC article.
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV, Leandro P, Luz A, Rivera IA, Silva MF, Ramos R, Rocha H, Lopes A, Fonseca H, Gaspar A, Diogo L, Martins E, Leão-Teles E, Vilarinho L, Tavares de Almeida I. Ventura FV, et al. Among authors: diogo l. Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829193
Antenatal manifestations of mitochondrial disorders.
Tavares MV, Santos MJ, Domingues AP, Pratas J, Mendes C, Simões M, Moura P, Diogo L, Grazina M. Tavares MV, et al. Among authors: diogo l. J Inherit Metab Dis. 2013 Sep;36(5):805-11. doi: 10.1007/s10545-012-9567-x. Epub 2013 Jan 30. J Inherit Metab Dis. 2013. PMID: 23361304
[Acute liver failure related to inherited metabolic diseases in young children].
Dias Costa F, Moinho R, Ferreira S, Garcia P, Diogo L, Gonçalves I, Pinto C. Dias Costa F, et al. Among authors: diogo l. An Pediatr (Engl Ed). 2018 Feb;88(2):69-74. doi: 10.1016/j.anpedi.2017.02.012. Epub 2017 Apr 12. An Pediatr (Engl Ed). 2018. PMID: 28411097 Free article. Spanish.
116 results