Isabel Tavares de Almeida

PhD (1988) in Pharmacy (Biochemistry), Universidade de Lisboa

Associate Professor, Biochemistry and Human Biology

Faculdade de Farmácia, Universidade de Lisboa — Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal

T (+351) 217946400
F (+351) 217946491
Researcher ID F-8319-2014
Group Researcher ID B-5293-2014
Scopus Author ID 7004144157 and 8130319900

Research Interests

My research interests involve biochemical and molecular aspects of Inborn Errors of Metabolism (IEMs) which are genetic disorders that incapacitate the cell to carry out vital biochemical reactions. Much of my work centres on the elucidation of metabolic profiles and their role on the pathophysiology of IEMs. We developed expertise in metabolic profiling (HPLC, GC, GC-MS, MS-MS), genotyping and enzymatic characterization, results that are translatable to the clinic supporting the diagnosis and therapeutic follow-up of IEMs.

Selected Publications

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O’Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40: 49-74.

Barroso M, Kao D, Blom HJ, Tavares de Almeida I, Castro R, Loscalzo J, Handy DE. S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation. Biochim Biophys Acta 2016; 1862: 82-92.

Moedas MF, van Cruchten AG, IJlst L, Kulik W, Tavares de Almeida I, Diogo L, Wanders RJA, Silva MFB. Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics. Metabolomics 2016; 12:142

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. 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. Gene 2016; 591: 417-24.

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? J Inherit Metab Dis 2015; 38: 889-94.