Associated Papers
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Stark JC et al.
Genome Medicine, 2025
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature.
Hu C et al.
Frontiers in Neurology, 2021
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Tanwar H et al.
Metabolic Brain Disease, 2019
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2019
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