Literature DB >> 6015567

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

J P Kampine, R O Brady, J N Kanfer, M Feld, D Shapiro.   

Abstract

Enzymes which catalyze the hydrolysis of glucocerebroside and sphingomyelin have been demonstrated in preparations of washed human white blood cells. The level of activity of these respective enzymes is markedly decreased in leukocyte preparations obtained from patients with Gaucher's and Niemann-Pick diseases. Assay of these enzymes may be useful in the differential diagnosis of the sphingolipidoses.

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Year:  1967        PMID： 6015567     DOI： 10.1126/science.155.3758.86

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  55 in total

1.  Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.

Authors:  Y Ben-Yoseph; H L Nadler
Journal:  J Clin Pathol       Date:  1978-11       Impact factor: 3.411

Review 2.  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

3.  Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.

Authors:  T Yutaka; A L Fluharty; R L Stevens; H Kihara
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

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

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

5.  Benefits from unearthing "a biochemical Rosetta Stone".

Authors:  Roscoe O Brady
Journal:  J Biol Chem       Date:  2010-10-28       Impact factor: 5.157

6.  Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy.

Authors:  H Kohn; P Manowitz; M Miller; A Kling
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

7.  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

8.  Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.

Authors:  B Bertagnolio; F Girotti; D Pelucchetti; M Pandolfo
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

9.  Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.

Authors:  K Harzer; A S Recke
Journal:  Humangenetik       Date:  1975-10-07

10.  [Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].

Authors:  K Harzer
Journal:  Klin Wochenschr       Date:  1974-12-15
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