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Items: 11

1.

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.

2.

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
3.

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.

Chuang WL, Pacheco J, Cooper S, Kingsbury JS, Hinds J, Wolf P, Oliva P, Keutzer J, Cox GF, Zhang K.

Mol Genet Metab Rep. 2015 Apr 17;3:55-7. doi: 10.1016/j.ymgmr.2015.04.001. eCollection 2015 Jun.

4.
5.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X.

Orphanet J Rare Dis. 2013 Jan 28;8:15. doi: 10.1186/1750-1172-8-15.

6.

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.

7.

The unconventional role of acid sphingomyelinase in regulation of retinal microangiopathy in diabetic human and animal models.

Opreanu M, Tikhonenko M, Bozack S, Lydic TA, Reid GE, McSorley KM, Sochacki A, Perez GI, Esselman WJ, Kern T, Kolesnick R, Grant MB, Busik JV.

Diabetes. 2011 Sep;60(9):2370-8. doi: 10.2337/db10-0550. Epub 2011 Jul 19.

8.

Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Xu YH, Barnes S, Sun Y, Grabowski GA.

J Lipid Res. 2010 Jul;51(7):1643-75. doi: 10.1194/jlr.R003996. Epub 2010 Mar 8. Review.

9.

Gamma-Normal-Gamma mixture model for detecting differentially methylated loci in three breast cancer cell lines.

Khalili A, Potter D, Yan P, Li L, Gray J, Huang T, Lin S.

Cancer Inform. 2007 Feb 7;3:43-54.

10.

Roles and regulation of secretory and lysosomal acid sphingomyelinase.

Jenkins RW, Canals D, Hannun YA.

Cell Signal. 2009 Jun;21(6):836-46. Review.

11.

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.

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