Literature DB >> 26837

Enzymic diagnosis of sphingolipidoses.

K Suzuki.   

Abstract

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Year:  1978        PMID： 26837     DOI： 10.1016/0076-6879(78)50049-9

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN： 0076-6879            Impact factor:   1.600


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  18 in total

1.  Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Authors:  U H Schueler; T Kolter; C R Kaneski; G C Zirzow; K Sandhoff; R O Brady
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

2.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Multiple sulfatase deficiency with a novel biochemical presentation.

Authors:  G Constantopoulos
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

4.  Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.

Authors:  A L Fluharty; L Neidengard; D Holtzman; H Kihara
Journal:  Metab Brain Dis       Date:  1986-09       Impact factor: 3.584

5.  Multiple sulphatase deficiency with early onset.

Authors:  E Vamos; I Liebaers; N Bousard; J Libert; N Perlmutter
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

6.  Central nervous system involvement in adult-onset Gaucher's disease.

Authors:  D Soffer; T Yamanaka; D A Wenger; K Suzuki; K Suzuki
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

7.  Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiency.

Authors:  A Tanaka; M Hirabayashi; M Ishii; S Yamaoka; M Kawamura; M Nishida; G Isshiki
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

8.  Increased globotriaosylceramide in familial dysautonomia.

Authors:  P Strasberg; H Yeger; I Warren
Journal:  Lipids       Date:  1992-12       Impact factor: 1.880

9.  Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides.

Authors:  T Ichioka; Y Kishimoto; S Brennan; G W Santos; A M Yeager
Journal:  Proc Natl Acad Sci U S A       Date:  1987-06       Impact factor: 11.205

10.  Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts.

Authors:  A Tanaka; S Higami; G Isshiki; T Matsumoto; M Furusawa
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982
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