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Results 1 - 10 of 22 for Mitochondrial DNA depletion syndrome 1
  1. ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
  2. ... 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 ...
  3. ... 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. ...
  4. ... 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 ...
  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 ...
  6. ... 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. ...
  7. ... FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 Genetic Testing Registry: Mitochondrial ...
  8. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Mitochondrial Diseases/Specifics
  9. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
  10. Leigh Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... National Institute of Neurological ...
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