Associated Papers
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Ben Halim N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
Tanner AK et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
Geng H et al.
Plos One, 2011
An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F et al.
Journal of Child Neurology, 2010
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
Regis S et al.
European Journal of Human Genetics : Ejhg, 2004
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Regis S et al.
Human Genetics, 2002
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
Regis S et al.
Molecular Genetics and Metabolism, 0
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