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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Syndrome and SUCLG1[original query]
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Journal of inherited metabolic disease 2015 Oct .
Carrozzo Rosalba, Verrigni Daniela, Rasmussen Magnhild, de Coo Rene, Amartino Hernan, Bianchi Marzia, Buhas Daniela, Mesli Samir, Naess Karin, Born Alfred Peter, Woldseth Berit, Prontera Paolo, Batbayli Mustafa, Ravn Kirstine, Joensen Fróði, Cordelli Duccio M, Santorelli Filippo Maria, Tulinius Mar, Darin Niklas, Duno Morten, Jouvencel Philippe, Burlina Alberto, Stangoni Gabriela, Bertini Enrico, Redonnet-Vernhet Isabelle, Wibrand Flemming, Dionisi-Vici Carlo, Uusimaa Johanna, Vieira Paivi, Osorio Andrés Nascimento, McFarland Robert, Taylor Robert W, Holme Elisabeth, Ostergaard Elseb
Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A".
Molecular genetics and metabolism reports 2018 12 18 10.
Chinopoulos Christos, Wevers Ron A, Waterham Hans R, Zafeiriou Dimitri
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
International journal of molecular sciences 2023 1 24 (2): .
Kistol Denis, Tsygankova Polina, Krylova Tatiana, Bychkov Igor, Itkis Yulia, Nikolaeva Ekaterina, Mikhailova Svetlana, Sumina Maria, Pechatnikova Natalia, Kurbatov Sergey, Bostanova Fatima, Migiaev Ochir, Zakharova Ekateri
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