Associated Papers
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
Marin V et al.
Frontiers in Genetics, 2024
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Sankaran BP et al.
Orphanet Journal of Rare Diseases, 2021
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Feng WX et al.
Frontiers in Genetics, 2021
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