Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

@article{Barth1994FrequencyOA,
  title={Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.},
  author={Maria Luiza Barth and C Ward and Anthony Harris and Ali Kandil Saad and Amy Fensom},
  journal={Journal of medical genetics},
  year={1994},
  volume={31 9},
  pages={667-71}
}
Arylsulphatase A (ASA, EC 3.1.6.1) is a lysosomal enzyme that catalyses cerebroside sulphate degradation. ASA deficiency is associated with metachromatic leucodystrophy (MLD), a rare autosomal recessive disorder, which is characterised by the storage of cerebroside sulphate. Low ASA activities can be also observed in clinically healthy persons, a condition termed ASA pseudodeficiency. Two mutations responsible for the majority of pseudodeficiency alleles have been defined in the ASA gene. These… CONTINUE READING

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Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas • 1999

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