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Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

Ersoy, Melike; Abali, Zehra Yavas; Papatya Cakir, Esra Deniz; Erdin, Soner; Yararbas, Kanay; Abali, Saygin (Walter De Gruyter Gmbh, 2025)

Objectives Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited metabolic disorder caused by ACSF3 variants leading to malonyl-CoA synthetase (MCS) deficiency. Despite its well-defined genetic basis, the ...