Esmeralda Martins

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Assistant Professor of Pediatrics

Instituto de Ciências Biomédicas Abel Salazar

Portugal

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About

Esmeralda Martins is an Assistant Professor of Pediatrics at the Instituto de Ciências Biomédicas Abel Salazar in Portugal. Her research focuses on metabolic disorders, particularly mitochondrial diseases and glycogen storage diseases, as evidenced by her recent articles on Leigh Syndrome and the genotype-phenotype correlations in various genetic conditions. Dr. Martins is actively involved in advancing diagnostic approaches and treatment strategies for lysosomal storage disorders, contributing valuable insights to the field of pediatric genetics.

Recent Grants

Grant: Close

Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach

Open Date: 2015-09-01

Close Date: 2018-02-01

Grant: Close

Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach

Open Date: 2015-09-01

Close Date: 2018-02-28

Grant: Close

Molecular diagnosis of OTC deficiency: too many unsolved cases

Open Date: 2009-02-01

Close Date: 2011-09-01

Grant: Close

Molecular diagnosis of OTC deficiency: too many unsolved cases

Open Date: 2009-02-01

Close Date: 2011-09-29

Articles (19)

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2024

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2021

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2021

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2021

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2021

Collaborators (8)

M. Fátima Macedo

University of Porto

PORTUGAL

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Tomas Honzik

ass. prof.

Charles University and General University Hospital in Prague, First Faculty of Medicine

CZECH REPUBLIC

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M Luz Maia

Professor

University of Porto

PORTUGAL

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giancarlo parenti

Full Professor

Università degli Studi di Napoli Federico II

ITALY

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Sandra Alves

Auxiliary Investigator (Staff Scientist). Head of the Lysosomal Storage Diseases Research Group

Instituto Nacional de Saúde Doutor Ricardo Jorge

PORTUGAL

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Maria J. Prata

University of Porto

PORTUGAL

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Ermelinda Santos Silva

Professora Auxiliar Convidada de Pediatria

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

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Luis Pereira de Almeida

Associate Professor

University of Coimbra

PORTUGAL

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Esmeralda Martins

Research Interests

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About

Recent Grants

Articles (19)

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum

Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study

Leukocyte Imbalances in Mucopolysaccharidoses Patients

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII

Assessing the effects of PMM2 variants on protein stability

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Implementing a transition program from paediatric to adult services in Phenylketonuria: Results after two years of follow-up with an adult team

Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations

Collaborators (8)

M. Fátima Macedo

Tomas Honzik

M Luz Maia

giancarlo parenti

Sandra Alves

Maria J. Prata

Ermelinda Santos Silva

Luis Pereira de Almeida

Make your next move.

Esmeralda Martins

Research Interests

Explore related searches

Contact this professor

About

Recent Grants

Articles (19)

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum

Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study

Leukocyte Imbalances in Mucopolysaccharidoses Patients

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects &lt; 5 years with mucopolysaccharidosis VII

Assessing the effects of PMM2 variants on protein stability

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Implementing a transition program from paediatric to adult services in Phenylketonuria: Results after two years of follow-up with an adult team

Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations

Collaborators (8)

M. Fátima Macedo

Tomas Honzik

M Luz Maia

giancarlo parenti

Sandra Alves

Maria J. Prata

Ermelinda Santos Silva

Luis Pereira de Almeida

Make your next move.

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII