Dionisi-Vici C - Search Results

1

TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274

2

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

Caruso U, Adami A, Bertini E, Burlina AB, Carnevale F, Cerone R, Dionisi-Vici C, Giordano G, Leuzzi E, Parenti G, Savasta S, Uziel G, Zeviani M. Caruso U, et al. J Inherit Metab Dis. 1996;19(2):143-8. doi: 10.1007/BF01799415. J Inherit Metab Dis. 1996. PMID: 8739951 Review. No abstract available.

3

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L. Dionisi-Vici C, et al. J Inherit Metab Dis. 1998 Feb;21(1):2-8. doi: 10.1023/a:1005397227996. J Inherit Metab Dis. 1998. PMID: 9501263

4

Oxidative abnormalities in Menkes disease.

Rizzo C, Bertini E, Piemonte F, Leuzzi V, Sabetta G, Federici G, Luchetti A, Dionisi-Vici C. Rizzo C, et al. J Inherit Metab Dis. 2000 Jun;23(4):349-51. doi: 10.1023/a:1005675012708. J Inherit Metab Dis. 2000. PMID: 10896291 No abstract available.

5

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Cavicchi C, Donati MA, Pasquini E, Poggi GM, Dionisi-Vici C, Parini R, Zammarchi E, Morrone A. Cavicchi C, et al. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

6

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

Fecarotta S, Parenti G, Vajro P, Zuppaldi A, Della Casa R, Carbone MT, Correra A, Torre G, Riva S, Dionisi-Vici C, Santorelli FM, Andria G. Fecarotta S, et al. J Inherit Metab Dis. 2006 Feb;29(1):186-9. doi: 10.1007/s10545-006-0120-7. J Inherit Metab Dis. 2006. PMID: 16601889

7

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C. Di Rosa G, et al. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736096

8

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. Dionisi-Vici C, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. J Inherit Metab Dis. 2006. PMID: 16763906 Review.

9

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010

10

Cobalamin C defect: natural history, pathophysiology, and treatment.

Martinelli D, Deodato F, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2011 Feb;34(1):127-35. doi: 10.1007/s10545-010-9161-z. Epub 2010 Jul 15. J Inherit Metab Dis. 2011. PMID: 20632110 Review.

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