Ana F. Gaspar
Lisbon, Portugal
Last Updated: 09/26/2026
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Found 11 publications
A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.
Journal: Cureus
Published: December 24, 2025
Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics.
Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids
Published: August 01, 2024
Storage Stability of Durum Wheat Pasta Enriched with Seaweeds Flours.
Journal: Foods (Basel, Switzerland)
Published: September 13, 2021
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Journal: Molecular genetics & genomic medicine
Published: August 05, 2020
Development and validation of a multi-residue and multi-class screening method of 44 antibiotics in salmon (Salmo salar) using ultra-high-performance liquid chromatography/time-of-flight mass spectrometry: Application to farmed salmon.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: February 07, 2019
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Journal: Current molecular medicine
Published: January 14, 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.
Journal: Mitochondrion
Published: October 23, 2018
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Journal: European journal of pediatrics
Published: October 20, 2018
Showing 1-11 of 11
Last Updated: 09/26/2026