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Items: 1 to 20 of 120

1.

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Stampfer M, Theiss S, Amraoui Y, Jiang X, Keller S, Ory DS, Mengel E, Fischer C, Runz H.

Orphanet J Rare Dis. 2013 Feb 22;8:35. doi: 10.1186/1750-1172-8-35.

2.

Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA.

Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Review.

3.

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D, Rohrbach M.

Orphanet J Rare Dis. 2014 Nov 26;9:176. doi: 10.1186/s13023-014-0176-7.

4.

[Adult onset Niemann-Pick type C disease and psychosis: literature review].

Maubert A, Hanon C, Metton JP.

Encephale. 2013 Oct;39(5):315-9. doi: 10.1016/j.encep.2013.04.013. Epub 2013 Aug 5. Review. French.

PMID:
23928063
5.

The adult form of Niemann-Pick disease type C.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.

Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review.

6.

Niemann-Pick disease type C.

Vanier MT.

Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Review.

7.

Disease and patient characteristics in NP-C patients: findings from an international disease registry.

Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M.

Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. Erratum in: Orphanet J Rare Dis. 2013;8:73.

8.

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA.

Neurology. 2012 May 15;78(20):1560-7. doi: 10.1212/WNL.0b013e3182563b82. Epub 2012 Apr 18.

PMID:
22517094
9.

[Niemann-Pick type C disease and psychosis: Two siblings].

Maubert A, Hanon C, Metton JP.

Encephale. 2015 Jun;41(3):238-43. doi: 10.1016/j.encep.2014.08.007. Epub 2014 Sep 18. French.

PMID:
25238906
10.

Niemann-Pick type C: a potentially treatable disorder?

Kheder A, Scott C, Olpin S, Hadjivassiliou M.

Pract Neurol. 2013 Dec;13(6):382-5. doi: 10.1136/practneurol-2013-000525. Epub 2013 Aug 1.

PMID:
23906593
11.

Niemann-Pick disease type C: analysis of 7 patients.

Xiong H, Bao XH, Zhang YH, Xu YN, Qin J, Shi HP, Wu XR.

World J Pediatr. 2012 Feb;8(1):61-6. doi: 10.1007/s12519-011-0284-6. Epub 2011 Jun 1.

PMID:
21633862
12.

[Clinical diagnosis of the adult form of Niemann-Pick type C disease].

Sedel F.

Arch Pediatr. 2010 Jun;17 Suppl 2:S50-3. doi: 10.1016/S0929-693X(10)70012-9. Review. French.

PMID:
20620896
13.

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR.

Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4.

PMID:
22326530
14.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

15.

Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Salsano E, Umeh C, Rufa A, Pareyson D, Zee DS.

Neurol Sci. 2012 Dec;33(6):1225-32. doi: 10.1007/s10072-012-1155-1. Epub 2012 Jul 19. Review.

PMID:
22810120
16.

[Niemann-Pick type C disease: clinical presentations in pediatric patients].

Héron B, Ogier H.

Arch Pediatr. 2010 Jun;17 Suppl 2:S45-9. doi: 10.1016/S0929-693X(10)70011-7. Review. French.

PMID:
20620895
17.

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group.

Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.

PMID:
22572546
18.

Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.

Pérez-Poyato MS, Gordo MM, Marfa MP.

Gene. 2012 Sep 10;506(1):207-10. doi: 10.1016/j.gene.2012.06.054. Epub 2012 Jun 28.

PMID:
22750297
19.

Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us.

Klünemann HH, Santosh PJ, Sedel F.

Int J Psychiatry Clin Pract. 2012 Sep;16(3):162-9. doi: 10.3109/13651501.2012.687451. Epub 2012 Jul 3. Review.

PMID:
22746831
20.

[Adult psychiatric aspects of Niemann-Pick disease].

Faludi G, Gonda X, Döme P.

Neuropsychopharmacol Hung. 2013 Jun;15(2):95-103. Review. Hungarian.

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