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Results 1 - 8 of 8 for Vici syndrome
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  1. ... 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 ...
  2. ... M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015 Mar 11;10: ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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: ...
  6. ... Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, ... Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. ...
  7. ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition ... Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di ...
  8. ... Health Condition MedlinePlus Genetics provides information about Leigh ... P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic ...