Browsing by Author "Buhas, Daniela."
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo, Rosalba.; Verrigini, Daniela.; Rasmussen, Magnhild.; De Coo, Rene.; Amartino, Hernán.; Bianchi, Marzia.; Buhas, Daniela.; et al. (John Wiley & Sons, Inc. All rights reserved, 2016-03-01)BACKGROUND: The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with ...