Disorders of Sphingolipid Metabolism

Author:

Barth Peter G.

Publisher

Springer Berlin Heidelberg

Reference94 articles.

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3. Brady RO, Kanfer JN, Mock MB, Fredrickson DS (1966) The metabolism of sphingomyelin II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci USA 55: 366–369

4. Schuchman EH, Levran O, Pereira LV, Desnick RJ (1992) Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 12: 197–205

5. Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R (1991) Niemann-Pick disease type C: an update. J Inherit Metab Dis 14: 580–595

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