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Results 1 - 10 of 26 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. SLC25A24 gene 
    ... adding or removing phosphate (P) atoms from the mitochondria. This exchange is essential ... females, is characterized by skull abnormalities that affect the shape of the head and ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  5. 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
  6. POLG gene 
    ... 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/genetics/gene/polg - Genetics
  7. TYMP gene 
    ... 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/genetics/gene/tymp - Genetics
  8. 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
  9. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  10. CA5A gene 
    ... and reduces the activity of the four affected mitochondrial enzymes, leading to various biochemical abnormalities that are associated with carbonic anhydrase VA deficiency ...
    https://medlineplus.gov/genetics/gene/ca5a - Genetics
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