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Items: 4


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.

JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.


Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.

Deroma L, Sechi A, Dardis A, Macor D, Liva G, Ciana G, Bembi B.

JIMD Rep. 2013;7:117-22. doi: 10.1007/8904_2012_158. Epub 2012 Jul 1.


Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome.

Ciana G, Fertz MC, Pecile V, Demarini S.

Case Rep Pediatr. 2011;2011:981941. doi: 10.1155/2011/981941. Epub 2011 Aug 3.


Eye movement impairment recovery in a Gaucher patient treated with miglustat.

Accardo A, Pensiero S, Ciana G, Parentin F, Bembi B.

Neurol Res Int. 2010;2010:358534. doi: 10.1155/2010/358534. Epub 2010 Sep 26.

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