Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 77

1.

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Breen C, Wynn RF, O'Meara A, O'Mahony E, Rust S, Imrie J, Wraith JE.

Mol Genet Metab. 2013 Jan;108(1):82-4. doi: 10.1016/j.ymgme.2012.11.006. Epub 2012 Nov 17.

PMID:
23219289
2.

Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.

Bonney DK, O'Meara A, Shabani A, Imrie J, Bigger BW, Jones S, Wraith JE, Wynn RF.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S171-3.

PMID:
20393800
3.

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].

Morisot C, Millat G, Coeslier A, Bourgois B, Fontenoy E, Dobbelaere D, Verot L, Haouari N, Vaillant C, Gottrand F, Bogaert E, Thelliez P, Klosowski S, Djebara A, Bachiri A, Manouvrier S, Vanier MT.

Arch Pediatr. 2005 Apr;12(4):434-7. French.

PMID:
15808435
4.

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.

Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):139-44. doi: 10.1016/j.ymgme.2013.05.019. Epub 2013 Jun 6.

PMID:
23791309
5.

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
6.

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT.

Am J Hum Genet. 2001 Nov;69(5):1013-21. Epub 2001 Sep 20.

7.

A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation.

Yaman A, Eminoğlu FT, Kendirli T, Ödek Ç, Ceylaner S, Kansu A, İnce E, Deda G.

J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1163-7. doi: 10.1515/jpem-2014-0358.

PMID:
26024245
8.

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G.

Clin Genet. 2007 Apr;71(4):320-30.

PMID:
17470133
9.

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

Sheth J, Joseph JJ, Shah K, Muranjan M, Mistri M, Sheth F.

BMC Med Genet. 2017 Jan 17;18(1):5. doi: 10.1186/s12881-017-0367-x. Review.

10.

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.

Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16.

11.

[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].

Fraile PQ, Hernández EM, Martínez de Aragón A, Macias-Vidal J, Coll MJ, Espert AN, Silva MT.

An Pediatr (Barc). 2010 Nov;73(5):257-63. doi: 10.1016/j.anpedi.2010.07.008. Spanish.

12.

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group.

Clin Genet. 2011 Jul;80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6.

PMID:
20718790
13.

Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation.

Vellodi A, Hobbs JR, O'Donnell NM, Coulter BS, Hugh-Jones K.

Br Med J (Clin Res Ed). 1987 Nov 28;295(6610):1375-6.

14.

Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease.

Nielsen GK, Dagnaes-Hansen F, Holm IE, Meaney S, Symula D, Andersen NT, Heegaard CW.

PLoS One. 2011;6(11):e27287. doi: 10.1371/journal.pone.0027287. Epub 2011 Nov 3.

15.

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.

16.

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P.

Orphanet J Rare Dis. 2014 Sep 19;9:140. doi: 10.1186/s13023-014-0140-6.

17.

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation.

Hsu YS, Hwu WL, Huang SF, Lu MY, Chen RL, Lin DT, Peng SS, Lin KH.

Bone Marrow Transplant. 1999 Jul;24(1):103-7.

18.

Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant.

Victor S, Coulter JB, Besley GT, Ellis I, Desnick RJ, Schuchman EH, Vellodi A.

J Inherit Metab Dis. 2003;26(8):775-85.

PMID:
14739682
19.

[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
20.

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

Supplemental Content

Support Center