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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: burlina a. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454
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. Among authors: burlina a. 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.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Fischer S, et al. Among authors: burlina ab. J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6. J Inherit Metab Dis. 2014. PMID: 24599607
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Faletra F, Athanasakis E, Morgan A, Biarnés X, Fornasier F, Parini R, Furlan F, Boiani A, Maiorana A, Dionisi-Vici C, Giordano L, Burlina A, Ventura A, Gasparini P. Faletra F, et al. Among authors: burlina a. Gene. 2013 May 25;521(1):160-5. doi: 10.1016/j.gene.2013.03.021. Epub 2013 Mar 16. Gene. 2013. PMID: 23506826
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. Reunert J, et al. Among authors: burlina ab, burlina ap. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.
580 results