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Results 1 - 7 of 7 for Mitochondrial complex 1 "deficiency," nuclear type 21
  1. Cytochrome c oxidase deficiency 
    ... MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9; MC4DN9 MITOCHONDRIAL COMPLEX IV DEFICIENCY, ... cytochrome C oxidase deficiency. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191. ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  2. Mitochondrial complex III deficiency 
    ... Ubiquinone-cytochrome c oxidoreductase deficiency Genetic Testing Registry: Mitochondrial complex III deficiency nuclear type 1 Genetic Testing Registry: Mitochondrial complex III deficiency nuclear ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  3. Mitochondrial complex V deficiency 
    ... Rare Disorders (NORD) MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  4. Mitochondrial complex I deficiency 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1 PubMed Alston CL, Rocha MC, Lax NZ, ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  5. BCS1L gene 
    ... mitochondrial complex III assembly Tests of BCS1L PubMed MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  6. Combined oxidative phosphorylation deficiency 1 
    ... Registry: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ... doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21. Citation on PubMed Balasubramaniam S, Choy YS, Talib ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  7. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic ...
    https://www.genome.gov/genetics-glossary - External Health Links