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Items: 1 to 20 of 34

1.

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
2.

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
3.

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
4.

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.

5.

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.

6.

[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
7.

[Adult psychiatric aspects of Niemann-Pick disease].

Faludi G, Gonda X, Döme P.

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

8.
9.

[Niemann-Pick disease types A and B].

Ohno K.

Nihon Rinsho. 1995 Dec;53(12):3014-8. Review. Japanese.

PMID:
8577051
10.

Niemann-Pick disease.

Kolodny EH.

Curr Opin Hematol. 2000 Jan;7(1):48-52. Review.

PMID:
10608504
11.

Use of acid sphingomyelinase for cancer therapy.

Savić R, Schuchman EH.

Adv Cancer Res. 2013;117:91-115. doi: 10.1016/B978-0-12-394274-6.00004-2. Review.

PMID:
23290778
12.

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
13.

Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters.

Takada G, Satoh W, Komatsu K, Konn Y, Miura Y, Uesaka Y.

Tohoku J Exp Med. 1987 Sep;153(1):27-36. Review.

14.

Acid Sphingomyelinase Deficiency.

Wasserstein MP, Schuchman EH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2006 Dec 7 [updated 2015 Jun 18].

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.

The adult form of Niemann-Pick disease type C.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.

Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review.

17.
18.

[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)].

Higaki K, Ohno K.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):360-2. Review. Japanese. No abstract available.

PMID:
9645083
19.

Pulmonary involvement in Niemann-Pick disease: case report and literature review.

Minai OA, Sullivan EJ, Stoller JK.

Respir Med. 2000 Dec;94(12):1241-51. Review.

20.

Lung affectation in an adult patient with Niemann-Pick disease, type B.

Castañón Martínez R, Fernández-Velilla Peña M, González Montaño MV, Gómez Carrera L, Torres Sánchez MI.

Arch Bronconeumol. 2012 Jun;48(6):213-5. doi: 10.1016/j.arbres.2011.07.009. Epub 2011 Nov 8. Review. English, Spanish.

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