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References

These sources were used to develop the Genetics Home Reference gene summary on the SMPD1 gene.

Entrez Gene
OMIM: SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL
Schuchman EH, Levran O, Pereira LV, Desnick RJ. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics. 1992 Feb;12(2):197-205. PubMed citation
Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. 2007 Oct;30(5):654-63. Epub 2007 Jul 12. Review. PubMed citation
Sikora J, Pavlu-Pereira H, Elleder M, Roelofs H, Wevers RA. Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. Ann Hum Genet. 2003 Jan;67(Pt 1):63-70. PubMed citation
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002 Dec;71(6):1413-9. Epub 2002 Oct 4. PubMed citation
Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am J Hum Genet. 2006 May;78(5):865-70. Epub 2006 Mar 14. PubMed citation
Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct;149(4):554-9. PubMed citation
Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004 Dec;114(6):e672-7. Epub 2004 Nov 15. PubMed citation


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