Dionisi-Vici C - Search Results

1

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Forny P, et al. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. J Inherit Metab Dis. 2021. PMID: 33595124 Free PMC article.

2

Allopurinol challenge test in children.

Burlina AB, Ferrari V, Dionisi-Vici C, Bordugo A, Zacchello F, Tuchman M. Burlina AB, et al. J Inherit Metab Dis. 1992;15(5):707-12. doi: 10.1007/BF01800010. J Inherit Metab Dis. 1992. PMID: 1434508

3

Acute pancreatitis in propionic acidaemia.

Burlina AB, Dionisi-Vici C, Piovan S, Saponara I, Bartuli A, Sabetta G, Zacchello F. Burlina AB, et al. J Inherit Metab Dis. 1995;18(2):169-72. doi: 10.1007/BF00711758. J Inherit Metab Dis. 1995. PMID: 7564238 No abstract available.

4

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.

5

Intravenous immune globulin in lysinuric protein intolerance.

Dionisi-Vici C, De Felice L, el Hachem M, Bottero S, Rizzo C, Paoloni A, Goffredo B, Sabetta G, Caniglia M. Dionisi-Vici C, et al. J Inherit Metab Dis. 1998 Apr;21(2):95-102. doi: 10.1023/a:1005383307100. J Inherit Metab Dis. 1998. PMID: 9584260

6

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

Deodato F, Rizzo C, Boenzi S, Baiocco F, Sabetta G, Dionisi-Vici C. Deodato F, et al. J Inherit Metab Dis. 2002 May;25(2):133-4. doi: 10.1023/a:1015632911801. J Inherit Metab Dis. 2002. PMID: 12118529

7

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.

den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA. den Boer ME, et al. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231. J Pediatr. 2003. PMID: 12838198

8

Increased NO production in lysinuric protein intolerance.

Mannucci L, Emma F, Markert M, Bachmann C, Boulat O, Carrozzo R, Rizzoni G, Dionisi-Vici C. Mannucci L, et al. J Inherit Metab Dis. 2005;28(2):123-9. doi: 10.1007/s10545-005-5954-x. J Inherit Metab Dis. 2005. PMID: 15877200

9

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

10

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

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