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Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses

(1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and gangliosidoses (GM1; GM2 variants B and 0) and validate t...

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Detalles Bibliográficos
Autores principales:	Strobel, Sebastian, Hesse, Naomi, Santhanakumaran, Vidiyaah, Groeschel, Samuel, Bruchelt, Gernot, Krägeloh-Mann, Ingeborg, Böhringer, Judith
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7761145/ https://www.ncbi.nlm.nih.gov/pubmed/33260765 http://dx.doi.org/10.3390/cells9122553

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