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Literature DB >> 6114634

The genetics of the aryl sulfatase A locus.

T Schaap, J Zlotogora, E Elian, Y Barak, G Bach.

Abstract

A genetic analysis was performed in an isolate in which metachromatic leukodystrophy (MLD) and aryl sulfatase A (ASA) pseudodeficiency are relatively frequent. The frequency of matings at risk and the frequency of ASA pseudodeficiency among parents of MLD patients are compatible with allelism between the gene determining MLD and the gene determining ASA pseudodeficiency. Two independent pedigrees including MLD patients and ASA-deficient healthy individuals also fit the model of allelism.

Entities: Disease Species

Mesh：

Substances：

Year: 1981 PMID： 6114634 PMCID： PMC1685088

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

12 in total

1. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy.

Authors: I T Lott; J T Dulaney; A Milunsky; D Hoefnagel; H W Moser
Journal: J Pediatr Date: 1976-09 Impact factor: 4.406

2. Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy.

Authors: A L Fluharty; R L Stevens; H Kihara
Journal: J Pediatr Date: 1978-05 Impact factor: 4.406

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

4. Infantile metachromatic leukodystrophy.

Authors: M M Kaback; R R Howell
Journal: N Engl J Med Date: 1970-06-11 Impact factor: 91.245

5. A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state.

Authors: N H Bass; E J Witmer; F E Dreifuss
Journal: Neurology Date: 1970-01 Impact factor: 9.910

6. Low arylsulphatase A activity in a family without metachromatic leukodystrophy.

Authors: J Butterworth; D M Broadhead; A J Keay
Journal: Clin Genet Date: 1978-10 Impact factor: 4.438

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

Authors: G Dubois; K Harzer; N Baumann
Journal: Am J Hum Genet Date: 1977-03 Impact factor: 11.025

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

9. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.

Authors: H Kihara; C K Ho; A L Fluharty; K K Tsay; P L Hartlage
Journal: Pediatr Res Date: 1980-03 Impact factor: 3.756

10. Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls.

Authors: G Dubois; J C Turpin; M C Georges; N Baumann
Journal: Biomedicine Date: 1980-02

9 in total

The genetics of the aryl sulfatase A locus.

1. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy.

2. Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy.

3. Inheritance of metachromatic leukodystrophy.

4. Infantile metachromatic leukodystrophy.

5. A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state.

6. Low arylsulphatase A activity in a family without metachromatic leukodystrophy.

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

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

9. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.

10. Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls.

Review 1. "Pseudodeficiencies" of lysosomal hydrolases.

2. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications.

3. Placental steroid deficiency: association with arylsulfatase A deficiency.

4. Arylsulfatase A in pseudodeficiency.

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

6. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

7. Maple syrup urine disease: two different forms within a single family.

8. The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients.

9. Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.