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Items: 9

1.

Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.

Ferlinz K, Hurwitz R, Sandhoff K.

Biochem Biophys Res Commun. 1991 Sep 30;179(3):1187-91.

PMID:
1718266
2.

[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
3.

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

Vanier MT.

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

PMID:
12124701
4.

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
5.

[Niemann-Pick disease types A and B].

Ohno K.

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

PMID:
8577051
6.

Sphingomyelinase enzyme assay in Niemann-Pick disease.

Kaur M, Das GP, Verma IC.

Indian J Pediatr. 1993 Jul-Aug;60(4):583-90. Review.

PMID:
8262595
7.

[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
8.

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.

9.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP.

Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Review.

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