Ana Pop

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 18 publications

Identification of a large DPYD gene deletion undetected by standard genotyping in a patient with severe capecitabine-related toxicity: a case report.

Identification of a large DPYD gene deletion undetected by standard genotyping in a patient with severe capecitabine-related toxicity: a case report.

Journal: Frontiers in pharmacology
Published: April 27, 2026

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.

Journal: Journal of inherited metabolic disease
Published: July 22, 2025

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.

Journal: JCO precision oncology
Published: May 06, 2024

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Riboflavin transporter deficiency in young adults unmasked by dietary changes.

Journal: JIMD reports
Published: November 08, 2023

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Journal: Molecular genetics and metabolism
Published: March 19, 2020

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

Journal: Neurology
Published: January 30, 2020

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.

Journal: JIMD reports
Published: July 11, 2019

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Journal: American journal of human genetics
Published: July 04, 2019

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Journal: Human mutation
Published: September 24, 2018

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Journal: Journal of inherited metabolic disease
Published: July 10, 2017

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Journal: Human mutation
Published: November 22, 2016

Phenotyping GABA transaminase deficiency: a case description and literature review.

Phenotyping GABA transaminase deficiency: a case description and literature review.

Journal: Journal of inherited metabolic disease
Published: April 19, 2016
Showing 1-12 of 18

Last Updated: 09/26/2026