Esmeralda Martins, MD, PhD

Integrated PhD researcher

orcid.org/0000-0002-9247-9391

Academic degrees:

2011:  PhD in Medical Sciences – With the theme Inborn errors of Metabolism, University of Porto, Thesis title: Inherited Metabolic Diseases: Importance of early detection for the child and family. ICBAS

1987: 6 year honor degree in Medicine by the Faculty of Medicine of Coimbra University

Positions:

• Since 2003: Graduate Assistant and Pediatric Consultant with special activity in hereditary metabolic disorders at Centro Hospitalar do Porto - Since 2009: Head of Metabolic Diseases Unit at Centro Hospitalar do Porto - Since 2012: Auxiliary Professor of Pediatrics at the Master Degree course in Medicine in Abel Salazar Institute of Biomedical Sciences - University of Porto
• Since 2014: Researcher in the Multidisciplinary Biomedical Research Unit (UMIB) at Abel Salazar Institute of Biomedical Sciences - University of Porto - Since 2016: Reference Center Coordinator for the area of Inborn Errors of Metabolism at Porto Hospital Center

Research interests:

• Inborn Errors of Metabolism are a large heterogeneous group in which more than 600 diseases are currently described. Although CHP Metabolic Disease Unit guaranties the clinical follow-up of all pathologies, nevertheless, due to the greater experience and the greater number of patients, research should focus on protein catabolism, mitochondrial, congenital disorders glycosylation and lysosomal storage disorders.

Research area keywords:

Inherited Metabolic Disorders, Rare Diseases, Clinical trials

Selected publications:

1. Silva ES, Cardoso ML, Vilarinho L, Medina M, Barbot C, Martins E. Liver transplantation prevents progressive neurological impairment in argininemia. JIMD Rep. 2013;11:25-30. doi: 10.1007/8904_2013_218. Epub 2013 Apr 5.
2. Martins E, Marcão A, Bandeira A, Fonseca H, Nogueira C, Vilarinho L. Methionine adenosyltransferase I/III deficiency in Portugal: high frequency of a dominantly inherited form in a small area of Douro high lands. J Inherit Metab Dis Reports 2012; 6: 107 112. doi: 10.1007/8904_2011_124
3. Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Leão Teles E, Vilarinho L Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis. 2011 34: 835-42. doi 10.1007/s10545-011-9287-7
4. Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Neonatal cholestasis: an uncommon presentation of hyperargininemia. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S503-6. doi: 10.1007/s10545-010-9263-7.
5. Garcia P#, Martins E#, Diogo L, Rocha H, Marcão A, Gaspar E, Almeida M, Vaz C, Soares I, Barbot C, Vilarinho L. Outcome of three cases of untreated maternal glutaric aciduria type I. Eur J Pediatr. 2008 May;167(5):569-73. Epub 2007 Jul 28. doi: 10.1007/s00431-007-0556-2

Ongoing projects:

• Estudo de seguimento multicêntrico observacional e prolongado com doentes com Síndrome de Hunter - Since 2014- Promoter entity: Shire Pharmaceuticals
• European Network and Registry for Homocystinurias and Methylation Defects (EHOD 2012-2016 This patient registry arises from the project E-HOD which has received funding from the European Union, in the framework of the Health Programme 2008-2013
• Kamper (Kuvan® Adult Maternal Pediatric European Registry). KAMPER is an ongoing, observational, multicentre registry with the primary objective of providing information over 15 years on longterm safety of sapropterin dihydrochloride treatment in patients with HPA. Here we report initial data on characteristics from patients recruited by the time of the third interim analysis and results at 1 year. (JIMD Rep. 2015;23:35-43. doi: 10.1007/8904_2015_425. Epub 2015 Mar 31) Since 2014 in Portugal - Promoter entity: Merck Serono.
• Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach Project financed by the National (PTDC/DTP-PIC/2220/2014). In collaboration with the National Institute of Health (INSA) (www.insa.pt/) and other national metabolic units.

Concluded projects:

• “Molecular diagnosis of OTC deficiency: too many unsolved cases”, Project da FCT - PIC/IC/82794/2007. In collaboration with the Institute of Molecular Pathology and Immunology of the University of Porto. Finished in 2012.
• “Survey Newborn Screening in Europe” Evaluation of population newborn screening practices for rare disorders in Member states of the European Union. Finished in 2012. http://ec.europa.eu/chafea/documents/news/Report_NBS_Current_Practices_20120108_FINAL.pdf
• Caracterização bioquímica e imunológica de doentes com doenças lisossomais e peroxisomais Finished in 2015 (Ref: 152/13- 098-DEFI/124-CES). Research Project in collaboration with Institute for Molecular and Cell Biology. Grant from Portuguese Society of Metabolic Disorders (SPDM) http://www.spdm.org.pt/)

Prizes, honors, awards:

2017- Best oral communication award International Symposium of the Portuguese Society of Metabolic Diseases

2011- Research grant from Department of Education Training and Research of the Centro Hospitalar do Porto

2010- Award of the best article published in the medical journal Nascer e Crescer in 2010, with the work "Cistinuria: Review of the literature and investigation of its genetic bases in four patients"

2007- Project research grant: Evaluation of the clinical and socio-economic benefits of neonatal screening in hereditary metabolic diseases. Project nº 16078-2007 - Research in Health Care.

2006- 1st PREMIUM - Poster Communication International Symposium of the Portuguese Society of Metabolic Diseases

International collaborations:

• Metabern (http://www.brains4brain.eu/the-european-reference-network-for-hereditary-metabolic-diseases-metabern-is-underway/)
• E- HOD (http://www.e-hod.org/)
• KAMPER

• Maria Dulce da Silva Quelhas, Doutoramento em Ciências Biomédicas, Epistasis in glycosylation proteins – impact on Congenital Disorders of Glycosylation, 2021
• Maria Margarida Coelho, Doutoramento em Ciências Biomédicas, A personalized medicine approach for mitochondrial respiratory chain disorders in childhood in the new era of genome sequence, 2021
• Ermelinda Ramalho Santos Silva, Doutoramento em Ciências Biomédicas, Neonatal cholestasis: contribution to is knowledge and strategies to improve patient diagnosis and prognosis, 2020

MSc thesis supervision (ongoing):

• Marta Catarina Moreira Rocha Carvalhinho, Doença crónica em idade pediátrica: Desafios na transição para a idade adulta, Mestrado Integrado em Medicina – ICBAS – UP, 2018

MSc thesis supervision (concluded):

• João Carlos Barros Rodrigues, Aplicações actuais de “dried blood spot” e seu potencial para o futuro, Mestrado Integrado em Medicina – ICBAS – UP, 2017

Science and Society:

• Member of the SPP - Portuguese Society of Pediatrics.
• Member of the SSIEM – Society for the Study of Inborn Errors of Metabolism.
• Member of the SPDM - Portuguese Society of Metabolic Disorders.
• Member of the Phenylketonuria group supported by the Portuguese Society of Metabolic Disorders