Results 1 -
10
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26
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Mitochondrial complex 1 "deficiency," mitochondrial type 1
- ... Ubiquinone-cytochrome c oxidoreductase deficiency Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 1 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; ...
- ... Rare Disorders (NORD) MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1 PubMed Alston CL, Rocha MC, Lax NZ, ...
- ... mitochondrial complex III assembly Tests of BCS1L PubMed MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ...
- ... Health Condition ODPA_HUMAN PDHA PDHCE1A PDHE1-A type I PHE1A ... E1-ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-1; PDHA1 ...
- ... ClinicalTrials.gov NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5 LEIGH SYNDROME; LS PubMed Lake NJ, ...
- ... I deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 PubMed Aintablian HK, Narayanan V, Belnap ...
- ... elongation factor G1 function. As a result, fewer mitochondrial proteins ... phosphorylation deficiency 1 because it impairs the function of more than ...
- ... OH acyl-CoA dehydrogenase deficiency Trifunctional protein deficiency, type 1 ... Angdisen J, Moore VD, Cline JM, Payne RM, Ibdah JA. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic ...