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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Cells
Egile Nagusiak: Strobel, Sebastian, Hesse, Naomi, Santhanakumaran, Vidiyaah, Groeschel, Samuel, Bruchelt, Gernot, Krägeloh-Mann, Ingeborg, Böhringer, Judith
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7761145/
https://ncbi.nlm.nih.gov/pubmed/33260765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells9122553
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