Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review

CONCLUSIONS: For the first time this study describes a later-onset phenotype of MLYCDD patients, characterized by single-organ involvement, mildly reduced enzyme activity, and a benign clinical course.PMID:37979716 | DOI:10.1016/j.ejmg.2023.104885

Source: European Journal of Medical Genetics - November 18, 2023 Category: Genetics & Stem Cells Authors: Emanuele Monda Athanasios Bakalakos Petros Syrris Saidi Mohiddin Sacha Ferdinandusse Elaine Murphy Perry Mark Elliott Source Type: research