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Results 1 - 10 of 15 for Mitochondrial DNA depletion syndrome 1
  1. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  2. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... neurohepatopathy is estimated to occur in 1 in 1,600 newborns. As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... DGUOK deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 PubMed Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. TWNK gene 
    ... frame 2 PEO1 PEO1_HUMAN progressive external ophthalmoplegia 1 protein T7 gp4-like protein with intramitochondrial nucleoid localization T7-like mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  6. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... depletion syndrome National Organization for Rare Disorders (NORD) ... Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  7. DGUOK gene 
    ... H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion ... Mol Genet Metab. 2024 Sep-Oct;143(1-2):108554. doi: 10.1016/j.ymgme.2024. ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  8. 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
  9. Infantile-onset spinocerebellar ataxia 
    ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  10. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an ... kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain. 2008 ... 1 and mitochondrial thymidine kinase 2: a mini review. Nucleosides Nucleotides ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
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