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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出版年:	Cells
主要な著者:	Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer
フォーマット:	論文
言語:	英語
出版事項:	MDPI AG 2020-11-01
主題:	lysosomal storage disease sphingolipidoses metachromatic leukodystrophy gangliosidoses
オンライン･アクセス:	https://www.mdpi.com/2073-4409/9/12/2553