Literature DB >> 4366391

Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C.

J W Callahan, M Khalil, J Gerrie.   

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Year:  1974        PMID: 4366391     DOI: 10.1016/0006-291x(74)90376-3

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


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  12 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.  Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process.

Authors:  M Elleder; A Jirásek; F Smíd
Journal:  Acta Neuropathol       Date:  1975-12-19       Impact factor: 17.088

4.  Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.

Authors:  K Harzer; W Schlote; J Peiffer; H U Benz; A P Anzil
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

5.  [Sphingolipid storage disease as an example of a molecular neuropathology (author's transl)].

Authors:  H Jatzkewitz; K Sandhoff
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1976-04-30

6.  Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.

Authors:  G T Besley; A D Bain
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

7.  Niemann-Pick disease: lipid storage in bone marrow macrophages.

Authors:  M Elleder; J Hrodek; J Cihula
Journal:  Histochem J       Date:  1983-11

8.  Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies.

Authors:  E F Gilbert; J Callahan; C Viseskul; J M Opitz
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

9.  Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D).

Authors:  E J Winsor; J P Welch
Journal:  Am J Hum Genet       Date:  1978-09       Impact factor: 11.025

10.  An unusual case of phospholipidosis.

Authors:  M Elleder; A Jirásek; F Smíd; K Harzer; D Schlegerová
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1978-04-17
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