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European Neurology|August 31, 2000
Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from PolandA Lugowska, B Czartoryska, A Tylki-Szymańska, et al.
Analytical Biochemistry|March 6, 2017
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseasesL Kuchar, J Sikora, M E Gulinello, et al.
Molecular Genetics and Metabolism|December 15, 2007
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting, B Winchester, D Bali, et al.
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