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Items: 1 to 20 of 230

1.

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH.

Mol Med. 2010 Jul-Aug;16(7-8):316-21. doi: 10.2119/molmed.2010.00017. Epub 2010 Apr 6.

3.

Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).

Manshadi MD, Kamalidehghan B, Keshavarzi F, Aryani O, Dadgar S, Arastehkani A, Tondar M, Ahmadipour F, Meng GY, Houshmand M.

Int J Mol Sci. 2015 Mar 24;16(4):6668-76. doi: 10.3390/ijms16046668.

4.

R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.

Aneja A, Sharma A, Dalal A, Sondhi V.

BMJ Case Rep. 2012 Nov 27;2012. pii: bcr2012006959. doi: 10.1136/bcr-2012-006959.

5.

Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

Rhein C, Mühle C, Kornhuber J, Reichel M.

Int J Mol Sci. 2015 Jun 15;16(6):13649-52. doi: 10.3390/ijms160613649.

6.

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F.

Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22.

PMID:
23618813
7.

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A.

Hum Mutat. 2009 Jul;30(7):1117-22. doi: 10.1002/humu.21018.

8.

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.

Hum Mutat. 2004 Aug;24(2):186-7.

PMID:
15241805
9.

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S, Filocamo M, Pianta A, Lualdi S, Gort L, Coll MJ, Sinnott R, Geberhiwot T, Bembi B, Dardis A.

Hum Mutat. 2016 Feb;37(2):139-47. doi: 10.1002/humu.22923. Epub 2015 Dec 1. Review.

PMID:
26499107
10.

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG.

Hum Mutat. 2005 Aug;26(2):164.

PMID:
16010684
11.

A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.

Hua R, Wu H, Cui Z, Chen JX, Wang Z.

Chin Med J (Engl). 2012 Apr;125(8):1511-2.

PMID:
22613662
12.

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH.

Am J Hum Genet. 2006 May;78(5):865-70. Epub 2006 Mar 14.

13.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Schuchman EH.

J Inherit Metab Dis. 2007 Oct;30(5):654-63. Epub 2007 Jul 12. Review.

PMID:
17632693
14.

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, Bermejo N, Guerrero C, Perez de Soto I, Villalón L, Giraldo P, Pocovi M.

Clin Genet. 2013 Oct;84(4):356-61. doi: 10.1111/cge.12076. Epub 2013 Jan 4.

PMID:
23252888
15.

Types A and B Niemann-Pick Disease.

Schuchman EH, Wasserstein MP.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:674-81. Review.

PMID:
27491215
17.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ.

Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30.

PMID:
22818240
19.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PMID:
15300847
20.

Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.

Ding Y, Li X, Liu Y, Hua Y, Song J, Wang L, Li M, Qin Y, Yang Y.

Eur J Med Genet. 2016 Apr;59(4):263-8. doi: 10.1016/j.ejmg.2015.11.012. Epub 2016 Feb 4.

PMID:
26851525

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