Matches in SemOpenAlex for { <https://semopenalex.org/work/W3190477344> ?p ?o ?g. }
- W3190477344 endingPage "989" @default.
- W3190477344 startingPage "989" @default.
- W3190477344 abstract "Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism. NFU1, BOLA3, IBA57, ISCA2, and ISCA1 are involved in the last steps of the maturation of mitochondrial [4Fe-4S]-containing proteins. Since 2011, mutations in their genes leading to five multiple mitochondrial dysfunction syndromes (MMDS types 1 to 5) were reported. The aim of this systematic review is to describe all reported MMDS-patients. Their clinical, biological, and radiological data and associated genotype will be compared to each other. Despite certain specific clinical elements such as pulmonary hypertension or dilated cardiomyopathy in MMDS type 1 or 2, respectively, nearly all of the patients with MMDS presented with severe and early onset leukoencephalopathy. Diagnosis could be suggested by high lactate, pyruvate, and glycine levels in body fluids. Genetic analysis including large gene panels (Next Generation Sequencing) or whole exome sequencing is needed to confirm diagnosis." @default.
- W3190477344 created "2021-08-16" @default.
- W3190477344 creator A5000466666 @default.
- W3190477344 creator A5006648785 @default.
- W3190477344 creator A5059995717 @default.
- W3190477344 date "2021-08-10" @default.
- W3190477344 modified "2023-10-17" @default.
- W3190477344 title "A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation" @default.
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