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

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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Bibliographic Details
Main Authors: Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Cells
Subjects:
lysosomal storage disease
sphingolipidoses
metachromatic leukodystrophy
gangliosidoses
Online Access:https://www.mdpi.com/2073-4409/9/12/2553

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https://www.mdpi.com/2073-4409/9/12/2553

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