Anabela O. Bandeira

Santo Antonio De Felheiros, Portugal

Last Updated: 09/26/2026

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Found 30 publications

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy.

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy.

Journal: European journal of pediatrics

Published: January 11, 2026

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Journal: Journal of inherited metabolic disease

Published: April 08, 2025

Protein intake and prevalence of overweight in patients with phenylketonuria: A 10-year longitudinal study.

Protein intake and prevalence of overweight in patients with phenylketonuria: A 10-year longitudinal study.

Journal: Molecular genetics and metabolism

Published: December 23, 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

Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency.

Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency.

Journal: Journal of pediatric hematology/oncology

Published: November 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

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

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

Journal: Genes

Published: June 26, 2023

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.

Journal: Journal of nutrition and metabolism

Published: October 23, 2021

Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.

Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.

Journal: Nutrients

Published: July 26, 2021

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Journal: Orphanet journal of rare diseases

Published: May 14, 2021

Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results After Two Years of Follow-Up with an Adult Team.

Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results After Two Years of Follow-Up with an Adult Team.

Journal: Nutrients

Published: December 30, 2020

SLC35A2-CDG: Novel variant and review.

SLC35A2-CDG: Novel variant and review.

Journal: Molecular genetics and metabolism reports

Published: December 08, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026