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Results: 1 to 20 of 126

Similar articles for PubMed (Select 22613662)

1.

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
2.

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.

A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.

Lan MY, Lin SJ, Chen YF, Peng CH, Liu YF.

Ann Hematol. 2009 Jul;88(7):695-7. doi: 10.1007/s00277-008-0648-8. Epub 2008 Dec 3. No abstract available.

PMID:
19050888
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.

PMID:
23188845
5.

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
6.

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.

7.

A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic.

Grasko Y, Hooper AJ, Burnett JR, Watts GF.

Ann Clin Biochem. 2014 Sep;51(Pt 5):615-8. doi: 10.1177/0004563214527067. Epub 2014 Mar 18.

PMID:
24643943
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
10.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X.

Orphanet J Rare Dis. 2013 Jan 28;8:15. doi: 10.1186/1750-1172-8-15.

11.

Two siblings with Niemann-Pick disease (NPD) type B: clinical findings and novel mutations of the acid sphingomyelinase gene.

Gucev Z, Tasic V, Pop-Jordanova N, Jancevska A, Simonaro CM, Schuchmann EH.

Indian J Pediatr. 2013 Feb;80(2):163-4. doi: 10.1007/s12098-012-0717-9. Epub 2012 Feb 25.

PMID:
22367733
12.

[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization].

Cho YU, Chae JD, Lee WM, Woo JJ, Lee HB, Gong SJ, Park CJ, Kim GH, Yoo HW.

Korean J Lab Med. 2009 Apr;29(2):97-103. doi: 10.3343/kjlm.2009.29.2.97. Korean.

14.
15.

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
16.

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

Dvorakova L, Sikora J, Hrebicek M, Hulkova H, Bouckova M, Stolnaja L, Elleder M.

J Inherit Metab Dis. 2006 Aug;29(4):591. Epub 2006 Jun 26.

PMID:
16802107
17.

Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

Sikora J, Pavlu-Pereira H, Elleder M, Roelofs H, Wevers RA.

Ann Hum Genet. 2003 Jan;67(Pt 1):63-70.

PMID:
12556236
18.

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
19.

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
20.

Preimplantation genetic diagnosis for Niemann-Pick disease type B.

Hellani A, Schuchman EH, Al-Odaib A, Al Aqueel A, Jaroudi K, Ozand P, Coskun S.

Prenat Diagn. 2004 Dec 15;24(12):943-8.

PMID:
15612058
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