Ciana G - Search Results

1

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: ciana g. JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772320 Free PMC article.

2

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. Deroma L, et al. Among authors: ciana g. JIMD Rep. 2013;7:117-22. doi: 10.1007/8904_2012_158. Epub 2012 Jul 1. JIMD Rep. 2013. PMID: 23430505 Free PMC article.

3

Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities.

Cerneca F, Andolina M, Simeone R, Boscolo R, Ciana G, Bembi B. Cerneca F, et al. Among authors: ciana g. Clin Pediatr (Phila). 1997 Mar;36(3):141-6. doi: 10.1177/000992289703600304. Clin Pediatr (Phila). 1997. PMID: 9078415

4

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B. Pittis MG, et al. Among authors: ciana g. Hum Mutat. 2004 Aug;24(2):186-7. doi: 10.1002/humu.9263. Hum Mutat. 2004. PMID: 15241805

5

Bone complications in children with Gaucher disease.

Bembi B, Ciana G, Mengel E, Terk MR, Martini C, Wenstrup RJ. Bembi B, et al. Among authors: ciana g. Br J Radiol. 2002;75 Suppl 1:A37-44. doi: 10.1259/bjr.75.suppl_1.750037. Br J Radiol. 2002. PMID: 12036831 Review.

6

Short-term effects of pamidronate in patients with Gaucher's disease and severe skeletal involvement.

Ciana G, Cuttini M, Bembi B. Ciana G, et al. N Engl J Med. 1997 Sep 4;337(10):712. doi: 10.1056/NEJM199709043371015. N Engl J Med. 1997. PMID: 9280823 No abstract available.

7

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

Dardis A, Filocamo M, Grossi S, Ciana G, Franceschetti S, Dominissini S, Rubboli G, Di Rocco M, Bembi B. Dardis A, et al. Among authors: ciana g. Mol Genet Metab. 2009 Aug;97(4):309-11. doi: 10.1016/j.ymgme.2009.04.011. Epub 2009 May 3. Mol Genet Metab. 2009. PMID: 19454373

8

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.

Ciana G, Deroma L, Franzil AM, Dardis A, Bembi B. Ciana G, et al. J Inherit Metab Dis. 2012 Nov;35(6):1101-6. doi: 10.1007/s10545-012-9476-z. Epub 2012 Mar 23. J Inherit Metab Dis. 2012. PMID: 22441841

9

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Among authors: ciana g. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

10

Response of Gaucher bone disease to enzyme replacement therapy.

Poll LW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, Weinreb NJ. Poll LW, et al. Among authors: ciana g. Br J Radiol. 2002;75 Suppl 1:A25-36. doi: 10.1259/bjr.75.suppl_1.750025. Br J Radiol. 2002. PMID: 12036830 Review.

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