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Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

  • Published:2020-05 Issue:1 Volume:130 Page:16-26
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Eskes Eline C.B.,Sjouke Barbara,Vaz Frédéric M.,Goorden Susan M.I.,van Kuilenburg André B.P.,Aerts Johannes M.F.G.,Hollak Carla E.M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference159 articles.

1. Types A and B Niemann-Pick disease;Schuchman;Mol. Genet. Metab.,2017

2. Lysosomal storage diseases;Ferreira;Transl. Sci. Rare Dis.,2017

3. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease;Schuchman;J. Inherit. Metab. Dis.,2007

4. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae;Brady;Proc. Natl. Acad. Sci. U. S. A.,1966

5. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease;Schuchman;FEBS Lett.,2010
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