Literature DB >> 7907382

The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.

S Goldenfum1, S Malcolm, E Young, B Winchester.   

Abstract

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Year:  1993        PMID： 7907382     DOI： 10.1007/bf00711527

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


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  2 in total

1.  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

2.  Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.

Authors:  J M Penzien; J Kappler; N Herschkowitz; B Schuknecht; P Leinekugel; P Propping; T Tønnesen; H Lou; H Moser; S Zierz
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025
  2 in total
  2 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

2.  Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.

Authors:  Lucia Laugwitz; Vidiyaah Santhanakumaran; Mareike Spieker; Judith Boehringer; Benjamin Bender; Volkmar Gieselmann; Stefanie Beck-Woedl; Gernot Bruchelt; Klaus Harzer; Ingeborg Kraegeloh-Mann; Samuel Groeschel
Journal:  JIMD Rep       Date:  2022-05-04
  2 in total

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