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Literature DB >> 5668537

Metachromatic leukodystrophy: diagnosis with samples of venous blood.

Abstract

Arylsulfatase A and B have been demonstrated in preparations of human leukocytes. The level of activity of arylsulfatase A is markedly decreased in the preparations from patients with metachromatic leukodystrophy. Acid phosphatase and arylsulfatase B activities were normal. The assay of arylsulfatase A in leukocyte preparations can be useful in the diagnosis of metachromatic leukodystrophy while obviating the difficulties of current methods.

Entities: Disease Gene Species

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Year: 1968 PMID： 5668537 DOI： 10.1126/science.161.3841.594

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

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Cited

38 in total

1. 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

2. Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.

Authors: R Christopher; K T Shetty
Journal: Indian J Clin Biochem Date: 1997-07

3. Arylsulphatase activity in the oviduct of the frog Rana esculenta. II. Progesterone-induced changes following ovariectomy and hypophysectomy.

Authors: L Vitaioli; E Baldoni; A Gobbetti; L Bellini
Journal: Histochem J Date: 1988-05

4. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.

Authors: H Pilz; H C Hopf
Journal: J Neurol Neurosurg Psychiatry Date: 1972-06 Impact factor: 10.154

10. [Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].

Authors: E Czmok; F Regli; K Harzer; H U Benz
Journal: Arch Psychiatr Nervenkr (1970) Date: 1974

Metachromatic leukodystrophy: diagnosis with samples of venous blood.

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

2. Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.

3. Arylsulphatase activity in the oviduct of the frog Rana esculenta. II. Progesterone-induced changes following ovariectomy and hypophysectomy.

4. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.

5. [Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)].

6. Metachromatic leucodystrophy. Two unusual cases of the late infantile form.

7. The genetics of the aryl sulfatase A locus.

8. Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.

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

10. [Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].