Laura Vilarinho

Porto, Portugal

Last Updated: 09/26/2026

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Found 78 publications

Can early diagnosis of Leigh syndrome impact prognosis?

Can early diagnosis of Leigh syndrome impact prognosis?

Journal: Expert review of neurotherapeutics

Published: September 08, 2026

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Journal: International journal of neonatal screening

Published: May 07, 2026

NMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.

NMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: May 27, 2025

Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.

Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.

Journal: International journal of neonatal screening

Published: May 18, 2025

Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.

Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.

Journal: Journal of clinical lipidology

Published: April 24, 2025

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Journal: International journal of neonatal screening

Published: January 08, 2025

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1.

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1.

Journal: JIMD reports

Published: December 10, 2024

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.

Journal: Diagnostics (Basel, Switzerland)

Published: August 31, 2024

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

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

Journal: Neurobiology of disease

Published: April 28, 2024

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Journal: International journal of neonatal screening

Published: January 26, 2024

History of Neonatal Screening of Congenital Hypothyroidism in Portugal.

History of Neonatal Screening of Congenital Hypothyroidism in Portugal.

Journal: International journal of neonatal screening

Published: December 22, 2023

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

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

Journal: Frontiers in cell and developmental biology

Published: October 31, 2023

Showing 1-12 of 78

Last Updated: 09/26/2026