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Results 1 - 10 of 15 for Mitochondrial DNA depletion syndrome 9
  1. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... condition. Fatal infantile lactic acidosis with methylmalonic aciduria Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MTDPS9 Succinate-coenzyme ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  2. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  3. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    ... Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  4. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... 243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. Citation on PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [ ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  5. SUCLG1 gene 
    ... 243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. Citation on PubMed El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  6. SUCLA2 gene 
    ... cycle. Brain. 2007 Mar;130(Pt 3):606-9. doi: 10.1093/brain/awm023. No abstract available. Citation on PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [ ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  7. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION SYNDROME 4B ... disorder. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25. doi: 10.1081/NCN-200027485. Citation ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  8. Alpers-Huttenlocher syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov ... compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6. doi: 10.1074/jbc. ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  9. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 Genetic Testing Registry: Mitochondrial ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  10. Deoxyguanosine kinase deficiency 
    ... symptoms of the condition. DGUOK deficiency DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome 3 (hepatocerebral ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
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