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Results 1 - 8 of 8 for Mitochondrial DNA depletion syndrome 11
  1. ... Disease InfoSearch National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION ... doi: 10.1016/j.mito.2006.11.010. Epub 2006 Dec 5. Citation on PubMed ...
  2. ... 198-203. doi: 10.1016/j.nmd.2009.11.013. Epub 2010 Jan 18. Citation on PubMed ... of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ...
  3. ... SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 MITOCHONDRIAL DNA DEPLETION ... doi: 10.1016/j.mito.2006.11.010. Epub 2006 Dec 5. Citation on PubMed ...
  4. ... GP. New mutations in TK2 gene associated with mitochondrial DNA depletion. ... syndrome. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub ...
  5. ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome ...
  6. ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene mutations ...
  7. ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
  8. ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition DNA polymerase subunit gamma-1 mitochondrial DNA polymerase catalytic subunit PolG, catalytic subunit PolG- ...