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Items: 1 to 20 of 206

1.

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
2.

Types A and B Niemann-Pick Disease.

Schuchman EH, Wasserstein MP.

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

PMID:
27491215
3.

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
4.

Types A and B Niemann-Pick disease.

Schuchman EH, Wasserstein MP.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):237-47. doi: 10.1016/j.beem.2014.10.002. Epub 2014 Oct 16. Review.

PMID:
25987176
5.

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.

6.

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.

8.

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.

9.

[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.

10.

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
11.

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

Wasserstein M, Godbold J, McGovern MM.

J Inherit Metab Dis. 2013 Jan;36(1):123-7. doi: 10.1007/s10545-012-9503-0. Epub 2012 Jun 21.

PMID:
22718274
12.

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
13.

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

Fotoulaki M, Schuchman EH, Simonaro CM, Augoustides-Savvopoulou P, Michelakakis H, Panagopoulou P, Varlamis G, Nousia-Arvanitakis S.

J Inherit Metab Dis. 2007 Nov;30(6):986. Epub 2007 Sep 17.

PMID:
17876723
14.

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.

15.

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
16.

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M.

J Inherit Metab Dis. 2005;28(2):203-27.

PMID:
15877209
17.

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
18.

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

Schuchman EH.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S48-57. Review.

PMID:
20040312
19.

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
20.

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