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Items: 16

1.
2.
3.

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
4.

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
5.

Types A and B Niemann-Pick Disease.

Schuchman EH, Wasserstein MP.

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

PMID:
27491215
6.

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
7.

Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease.

Schuchman EH.

FEBS Lett. 2010 May 3;584(9):1895-900. doi: 10.1016/j.febslet.2009.11.083. Epub 2009 Nov 26. Review.

8.

Acid Sphingomyelinase Deficiency.

Wasserstein MP, Schuchman EH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Dec 7 [updated 2015 Jun 18].

9.

Niemann-Pick diseases.

Vanier MT.

Handb Clin Neurol. 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. Review.

PMID:
23622394
10.

[Advances in molecular genetics of the Niemann-Pick group of diseases].

Ohno K.

Nihon Rinsho. 1993 Sep;51(9):2293-9. Review. Japanese.

PMID:
8411705
11.

[Adult psychiatric aspects of Niemann-Pick disease].

Faludi G, Gonda X, Döme P.

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

12.

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
13.

Types A and B Niemann-Pick disease.

Schuchman EH, Desnick RJ.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16. Review.

PMID:
28164782
14.

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice.

Ledesma MD, Prinetti A, Sonnino S, Schuchman EH.

J Neurochem. 2011 Mar;116(5):779-88. doi: 10.1111/j.1471-4159.2010.07034.x. Epub 2011 Jan 7. Review.

15.

The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.

Smith EL, Schuchman EH.

FASEB J. 2008 Oct;22(10):3419-31. doi: 10.1096/fj.08-108043. Epub 2008 Jun 20. Review.

16.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

McGovern MM, Avetisyan R, Sanson BJ, Lidove O.

Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Review.

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