Associated Papers
Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.
Vela-Amieva M et al.
Molecular Genetics and Metabolism Reports, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Cameron JM et al.
Genetics in Medicine Open, 2024
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Freua F et al.
Cold Spring Harbor Molecular Case Studies, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1
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