Literature DB >> 7807940

Searching for mutations in the arylsulphatase A gene.

M B Salamon1, E Christensen, M Schwartz.   

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Year:  1994        PMID： 7807940     DOI： 10.1007/bf00711816

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  The assay of arylsulphatases A and B in human urine.

Authors:  H BAUM; K S DODGSON; B SPENCER
Journal:  Clin Chim Acta       Date:  1959-05       Impact factor: 3.786

2.  Population frequency of the arylsulphatase A pseudo-deficiency allele.

Authors:  P V Nelson; W F Carey; C P Morris
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

3.  Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

Authors:  V Gieselmann; A Polten; J Kreysing; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

4.  Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy.

Authors:  J Kappler; R W Watts; E Conzelmann; D A Gibbs; P Propping; V Gieselmann
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

5.  Molecular basis of different forms of metachromatic leukodystrophy.

Authors:  A Polten; A L Fluharty; C B Fluharty; J Kappler; K von Figura; V Gieselmann
Journal:  N Engl J Med       Date:  1991-01-03       Impact factor: 91.245

6.  An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.

Authors:  V Gieselmann
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

7.  Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Authors:  V Gieselmann; A L Fluharty; T Tønnesen; K Von Figura
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

8.  Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.

Authors:  N Shen; Z G Li; J S Waye; G Francis; P L Chang
Journal:  Am J Med Genet       Date:  1993-03-01
  8 in total
  1 in total

1.  Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.

Authors:  S Leistner; E Young; C Meaney; B Winchester
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  1 in total

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