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Page 1
Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
Ramadža DP, Sarnavka V, Vuković J, Fumić K, Krželj V, Lozić B, Pušeljić S, Pereira H, Silva MJ, Tavares de Almeida I, Barić I, Rivera I. Ramadža DP, et al. Among authors: tavares de almeida i. J Pediatr Endocrinol Metab. 2018 Jan 26;31(1):71-75. doi: 10.1515/jpem-2017-0302. J Pediatr Endocrinol Metab. 2018. PMID: 29252199
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: tavares de almeida i. Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829193
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ. Mendes MI, et al. Among authors: tavares de almeida i. J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23. J Inherit Metab Dis. 2014. PMID: 23974653
Functional correction by antisense therapy of a splicing mutation in the GALT gene.
Coelho AI, Lourenço S, Trabuco M, Silva MJ, Oliveira A, Gaspar A, Diogo L, Tavares de Almeida I, Vicente JB, Rivera I. Coelho AI, et al. Among authors: tavares de almeida i. Eur J Hum Genet. 2015 Apr;23(4):500-6. doi: 10.1038/ejhg.2014.149. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052314 Free PMC article.
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Pinheiro A, et al. Among authors: tavares de almeida i. Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. Gene. 2016. PMID: 27343776
47 results