Associated Papers
Fetal and obstetrics manifestations of mitochondrial diseases.
Adelizzi A et al.
Journal of Translational Medicine, 2024
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.
Katkevica A et al.
Case Reports in Medicine, 2021
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
Piekutowska-Abramczuk D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.
Piekutowska-Abramczuk D et al.
Journal of Applied Genetics, 2001
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