Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers-论文-万方医学网

Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers

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作者： Wongkittichote, Parith ^[1] ; Pantano, Cassandra ; Bogush, Emily ; Alves, Cesar Augusto P. ; Hong, Xinying ; He, Miao ; Demczko, Matthew M. ; Ganetzky, Rebecca D. ; Goldstein, Amy

作者单位： Amer Coll Med Genet & GenomUniv British Columbia University of British Columbia Duke Univ Hlth Syst ^[1]

关键词 IBA57 Iron -sulfur clusters Mitochondrial disorder Rhabdomyolysis Lysine metabolism MUTATIONS GENE DEFICIENCY BIOGENESIS PROTEINS DISEASE BOLA3 ISCA2 NFU1

发布时间 2024-04-10

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Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers

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Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers

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