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An Unusual Homozygous Arylsulfatase A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient
Journal of Child Neurology, 07/08/09
Tinsa F et al. - The authors report the case of a 3-year-old boy who presented a severe form of late infantile metachromatic leukodystrophy. This patient was found to be homozygous for the arylsulfatase A pseudodeficiency. This condition is rare and can lead to a severe disease. Prenatal diagnosis was performed in this family, and the fetus was healthy.
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