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Items: 1 to 20 of 21

1.

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH.

Nat Genet. 1995 Jul;10(3):288-93.

PMID:
7670466
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.

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.

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.

[Niemann-Pick disease types A and B].

Ohno K.

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

PMID:
8577051
6.

Niemann-Pick disease.

Kolodny EH.

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

PMID:
10608504
7.

[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
8.

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

Vanier MT.

Prenat Diagn. 2002 Jul;22(7):630-2. Review.

PMID:
12124701
9.

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.

10.

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.

11.

[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
12.

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.

13.

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
14.

Sphingomyelinases and Niemann-Pick disease.

Levade T, Salvayre R, Douste-Blazy L.

J Clin Chem Clin Biochem. 1986 Apr;24(4):205-20. Review.

PMID:
3009683
15.

[Adult psychiatric aspects of Niemann-Pick disease].

Faludi G, Gonda X, Döme P.

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

16.

[Type A and B Niemann-Pick disease].

Higaki K, Ohno K.

Nihon Rinsho. 2001 Mar;59 Suppl 3:305-8. Review. Japanese. No abstract available.

PMID:
11347081
17.
18.

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
19.

Using ASMase knockout mice to model human diseases.

Hua G, Kolesnick R.

Handb Exp Pharmacol. 2013;(216):29-54. doi: 10.1007/978-3-7091-1511-4_2. Review.

PMID:
23563650
20.

[Characteristics of biochemical disorders in hereditary enzymopathies in humans and animals].

Rozenfel'd EL.

Vopr Med Khim. 1982 May-Jun;28(3):2-7. Review. Russian. No abstract available.

PMID:
6125053
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