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Results 1 - 10 of 20 for Vici syndrome
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  1. Vici syndrome 
    Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  2. EPG5 gene 
    ... the EPG5 gene have been found to cause Vici syndrome, a severe condition that primarily affects the brain, ... the impairment leads to signs and symptoms of Vici syndrome. More About This Health Condition ectopic P granules ...
    https://medlineplus.gov/genetics/gene/epg5 - Genetics
  3. SLC25A15 gene 
    ... M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015 Mar 11;10: ...
    https://medlineplus.gov/genetics/gene/slc25a15 - Genetics
  4. Ornithine translocase deficiency 
    ... M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015 Mar 11;10: ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  5. ALDH18A1 gene 
    ... M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Haberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  6. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... 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.2006.11.010. Epub 2006 Dec 5. Citation on PubMed Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  7. DGUOK gene 
    ... DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Citation on PubMed Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  8. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio ... syndromes: review and updates of genetic basis, manifestations, and ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  9. SUCLG1 gene 
    ... Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, ... Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  10. TMEM70 gene 
    ... synthase assembly defect: further delineation of a new syndrome. J Med Genet. ... M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R. TMEM70: ...
    https://medlineplus.gov/genetics/gene/tmem70 - Genetics
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