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Page 1
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
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
Carbohydrate-deficient glycoprotein syndromes: the Italian experience.
Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A. Di Rocco M, et al. J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977. J Inherit Metab Dis. 2000. PMID: 10896302 No abstract available.
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
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930
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
333 results