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Literature DB >> 15452

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

Abstract

Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented. This report reinforces the relationship between the two enzymatic activities.

Entities: Disease Gene

Mesh：

Substances：

Year: 1977 PMID： 15452 PMCID： PMC1685259

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

8 in total

1. Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy.

Authors: G Dubois; J C Turpin; N Baumann
Journal: N Engl J Med Date: 1975-08-07 Impact factor: 91.245

2. Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay.

Authors: G Dubois; J C Turpin; N Baumann
Journal: Biomedicine Date: 1975-04-10

3. Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

Authors: J Vidgoff; N R Buist; J S O'Brien
Journal: Am J Hum Genet Date: 1973-07 Impact factor: 11.025

4. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors: R Navon; B Padeh; A Adam
Journal: Am J Hum Genet Date: 1973-05 Impact factor: 11.025

5. Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).

Authors: H Jatzkewitz; E Mehl
Journal: J Neurochem Date: 1969-01 Impact factor: 5.372

6. Absence of hexosaminidase A and B in a normal adult.

Authors: J C Dreyfus; L Poenaru; L Svennerholm
Journal: N Engl J Med Date: 1975-01-09 Impact factor: 91.245

7. [Use of electrophoresis for the detection of metachromatic leukodystrophy from human leukocytes].

Authors: G Dubois; J C Turpin; N Baumann
Journal: C R Acad Hebd Seances Acad Sci D Date: 1974-03-04

8. Metachromatic leukodystrophy: diagnosis with samples of venous blood.

Authors: A K Percy; R O Brady
Journal: Science Date: 1968-08-09 Impact factor: 47.728

8 in total

27 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. Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

Authors: Ladislav Kuchař; Befekadu Asfaw; Helena Poupětová; Jitka Honzíková; František Tureček; Jana Ledvinová
Journal: Clin Chim Acta Date: 2013-07-06 Impact factor: 3.786

3. Inheritance of metachromatic leukodystrophy.

Authors: U Langenbeck; P Dunker; R Heipertz; H Pilz
Journal: Am J Hum Genet Date: 1977-11 Impact factor: 11.025

Review 4. Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Authors: Kenneth J Valenzano; Richie Khanna; Allan C Powe; Robert Boyd; Gary Lee; John J Flanagan; Elfrida R Benjamin
Journal: Assay Drug Dev Technol Date: 2011-06 Impact factor: 1.738

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

1. Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy.

2. Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay.

3. Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

4. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

5. Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).

6. Absence of hexosaminidase A and B in a normal adult.

7. [Use of electrophoresis for the detection of metachromatic leukodystrophy from human leukocytes].

8. Metachromatic leukodystrophy: diagnosis with samples of venous blood.

Review 1. Basic findings and current developments in sphingolipidoses.

2. Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

3. Inheritance of metachromatic leukodystrophy.

Review 4. Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

5. Heterozygote detection in MLD. allelic mutations at the ARA locus.

Review 6. Genetic heterogeneity in metachromatic leukodystrophy.

Review 7. Molecular genetics of metachromatic leukodystrophy.

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

9. The genetics of the aryl sulfatase A locus.

10. Atypical metachromatic leukodystrophy? Problems with the biochemical diagnosis.