Associated Papers
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J et al.
Brain Topography, 2022
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Papa S et al.
Biochimica Et Biophysica Acta, 2009
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.
Lemonde HA et al.
Gut, 2003
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
Budde SM et al.
Journal of Inherited Metabolic Disease, 2003
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