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208 results

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Page 1
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium. Posset R, et al. Among authors: burlina ab. J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031. J Inherit Metab Dis. 2019. PMID: 30740724 Free PMC article.
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
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.
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting FK, Superti-Furga A, et al. Hoffmann GF, et al. J Inherit Metab Dis. 1995;18(2):173-6. doi: 10.1007/BF00711759. J Inherit Metab Dis. 1995. PMID: 7564239 No abstract available.
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.
208 results