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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Fecarotta S, et al. Among authors: andria g. Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. Orphanet J Rare Dis. 2015. PMID: 25888393 Free PMC article. Clinical Trial.
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
Melis D, Rossi A, Pivonello R, Salerno M, Balivo F, Spadarella S, Muscogiuri G, Casa RD, Formisano P, Andria G, Colao A, Parenti G. Melis D, et al. Among authors: andria g. Orphanet J Rare Dis. 2015 Jul 29;10:91. doi: 10.1186/s13023-015-0301-2. Orphanet J Rare Dis. 2015. PMID: 26219379 Free PMC article.
251 results