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Results 1 - 10 of 12 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. 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
  3. 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
  4. 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
  5. Mitochondrial complex V deficiency 
    ... 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/.../mitochondrial-complex-v-deficiency - Genetics
  6. Deoxyguanosine kinase deficiency 
    ... Citation on PubMed Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo ... syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  7. Tyrosine hydroxylase deficiency 
    ... Organization for Rare Disorders (NORD) ... Hoffmann GF, Assmann B, Brautigam C, Dionisi-Vici C, Haussler M, de Klerk JB, Naumann M, ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  8. Ethylmalonic encephalopathy 
    ... Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, ... Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic ...
    https://medlineplus.gov/.../condition/ethylmalonic-encephalopathy - Genetics
  9. Tyrosinemia 
    ... gene in Tunisian families affected with Richner-Hanhart syndrome. Gene. 2013 ... de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti ...
    https://medlineplus.gov/genetics/condition/tyrosinemia - Genetics
  10. COG5-congenital disorder of glycosylation 
    ... and symptoms of the condition. ... D, Keldermans L, Race V, Regal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
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