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UnknownAltered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Not available
S-EPMC3579397 | biostudies-literature
UnknownNeurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.
Not available
S-EPMC6469182 | biostudies-literature
UnknownThe Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Not available
S-EPMC3932222 | biostudies-literature
UnknownModeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids.
Not available
S-EPMC10074100 | biostudies-literature
UnknownEthylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation.
Not available
S-EPMC7476058 | biostudies-literature
UnknownMitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives.
Not available
S-EPMC9916997 | biostudies-literature
UnknownInherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.
Not available
S-EPMC10054636 | biostudies-literature
UnknownNovel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Not available
S-EPMC1736058 | biostudies-literature
UnknownNonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Not available
S-EPMC3030164 | biostudies-literature
UnknownNonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Not available
S-EPMC2598032 | biostudies-literature
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