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pro vyhledávání: '"Rami Ghabril"'
Autor:
Marwa El Masri, Carla Chikhani, Hicham Mansour, Rami Ghabril, Dany Hamod, Andre Mgarbane, Maroun Sokhn
Publikováno v:
Journal of Rare Diseases and Orphan Drugs. :1-4
Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It