Newborn Screening
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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder characterized by progressive neurodegeneration due to a deficiency in the enzyme arylsulfatase-A (ARSA). This deficiency leads to… Read more
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Newborn Screening for Metachromatic Leukodystrophy in Northern Germany – A prospective study
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Introduction Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal-recessive… Read more