Ariadna Del Angel-Gonzalez

Cp 04530
Mexico, MEX 04530, Mexico

Last Updated: 09/26/2026

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Found 49 publications

Propionic acidemia in Mexico: Clinical and genotypic spectrum.

Propionic acidemia in Mexico: Clinical and genotypic spectrum.

Journal: Molecular genetics and metabolism reports

Published: January 21, 2026

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Journal: International journal of molecular sciences

Published: May 22, 2025

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Journal: Molecular genetics and metabolism reports

Published: September 19, 2024

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

Journal: International journal of molecular sciences

Published: August 12, 2024

Does the esv3587290 Copy Number Variation in the VANGL1 Gene Differ as a Genetic Factor for Developing Nephritis in Mexican Childhood-Onset Systemic Lupus Erythematosus Patients?

Does the esv3587290 Copy Number Variation in the VANGL1 Gene Differ as a Genetic Factor for Developing Nephritis in Mexican Childhood-Onset Systemic Lupus Erythematosus Patients?

Journal: Children (Basel, Switzerland)

Published: April 30, 2024

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.

Journal: Children (Basel, Switzerland)

Published: October 18, 2023

Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex.

Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex.

Journal: Children (Basel, Switzerland)

Published: July 21, 2023

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.

Journal: International journal of molecular sciences

Published: July 05, 2023

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.

Journal: Clinical dysmorphology

Published: December 12, 2022

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

Journal: Life (Basel, Switzerland)

Published: September 26, 2022

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.

Journal: Frontiers in genetics

Published: July 13, 2022

Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency.

Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency.

Journal: Clinical biochemistry

Published: July 09, 2022

Showing 1-12 of 49

Last Updated: 09/26/2026