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Results 1 - 8 of 8 for Abnormality of mitochondrial metabolism
  1. Ataxia neuropathy spectrum 
    ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial ... implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  2. Myoclonic epilepsy myopathy sensory ataxia 
    ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial ... implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  3. Childhood myocerebrohepatopathy spectrum 
    ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial ... implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 ...
    https://medlineplus.gov/.../childhood-myocerebrohepatopathy-spectrum - Genetics
  4. Alpers-Huttenlocher syndrome 
    ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48( ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2): ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  5. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... Naini A, Tadesse S, Oliver JA, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. Mitochondrion. 2002 Nov;2(1- ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  6. Carbonic anhydrase VA deficiency 
    ... and reduces the activity of the four affected mitochondrial enzymes, resulting in the various biochemical abnormalities associated with carbonic anhydrase VA deficiency. These imbalances ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  7. Dilated cardiomyopathy with ataxia syndrome 
    ... dilated cardiomyopathic syndrome due to defective importation of mitochondrial ... metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  8. Cutis laxa 
    ... fiber biogenesis, TGFbeta signaling, the secretory pathway and metabolism. Matrix Biol. 2014 Jan;33:16-22. doi: ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics