Literature DB >> 5777777

Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.

H R Sloan, B W Uhlendorf, J N Kanfer, R O Brady, D S Fredrickson.   

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Year:  1969        PMID： 5777777     DOI： 10.1016/0006-291x(69)90777-3

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  11 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Sphingomyelinase activities in cultured skin fibroblasts from patients with Niemann-Pick Disease.

Authors:  R Minami; Y Matsuura; F Nakamura; T Kudoh; H Sogawa; K Oyanagi; K Sukegawa; T Orii; K Maruyama; T Nakao
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

3.  Studies on sphingomyelinase activity in cultured cells and leucocytes.

Authors:  G T Besley
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

4.  A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

Authors:  E L Schneider; P G Pentchev; S R Hibbert; A Sawitsky; R O Brady
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

5.  Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation.

Authors:  H Sogawa; K Horino; F Nakamura; T Kudoh; K Oyanagi; T Yamanouchi; R Minami; T Nakao; A Watanabe; Y Matsuura
Journal:  Eur J Pediatr       Date:  1978-07-19       Impact factor: 3.183

6.  In utero diagnosis of Niemann-Pick disease.

Authors:  C J Epstein; R O Brady; E L Schneider; R M Bradley; D Shapiro
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

7.  The genetic mismanagement of complex lipid metabolism.

Authors:  R O Brady
Journal:  Bull N Y Acad Med       Date:  1971-02

8.  Experimental polymer storage disease in rabbits. An approach to the histogenesis of sphingolipidoses.

Authors:  K Miyasaki
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1975

9.  Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts.

Authors:  J D Butler; M E Comly; H S Kruth; M Vanier; M Filling-Katz; J Fink; N Barton; H Weintroub; J M Quirk; T Tokoro
Journal:  Proc Natl Acad Sci U S A       Date:  1987-01       Impact factor: 11.205

10.  Enzyme deficiency in cholesteryl ester storage idisease.

Authors:  H R Sloan; D S Fredrickson
Journal:  J Clin Invest       Date:  1972-07       Impact factor: 14.808
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