Silvia O. Sequeira

Figueiredo, 1249018, Portugal

Last Updated: 09/26/2026

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Found 16 publications

Microbial Assessment in A Rare Norwegian Book Collection: A One Health Approach to Cultural Heritage.

Microbial Assessment in A Rare Norwegian Book Collection: A One Health Approach to Cultural Heritage.

Journal: Microorganisms

Published: May 27, 2024

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Journal: Frontiers in genetics

Published: November 02, 2022

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Journal: Molecular genetics & genomic medicine

Published: August 05, 2020

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Journal: The Journal of pediatrics

Published: August 04, 2020

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

Journal: Orphanet journal of rare diseases

Published: May 24, 2020

Fungi in archives, libraries, and museums: a review on paper conservation and human health.

Fungi in archives, libraries, and museums: a review on paper conservation and human health.

Journal: Critical reviews in microbiology

Published: December 10, 2019

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

Journal: Mitochondrion

Published: October 23, 2018

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

Journal: CEN case reports

Published: November 10, 2017

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Journal: Annals of neurology

Published: June 13, 2017

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

Journal: Neuropediatrics

Published: May 16, 2017

Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.

Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.

Journal: Brain & development

Published: October 25, 2016

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Journal: Clinical genetics

Published: March 24, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026