Detection of GM1‐gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry
Author:
Affiliation:
1. Departments of Chemistry University of Washington Seattle Washington USA
2. CUREGM1 Foundation Albany California USA
3. Departments of Biochemistry University of Washington Seattle Washington USA
Funder
National Institutes of Health
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12269
Reference6 articles.
1. Characterization of glycan substrates accumulating in GM1 Gangliosidosis;Lawrence R;Mol Genet Metab Rep,2019
2. The Structures of Oligosaccharides Accumulating in the Liver of G1-Gangliosidosis, Type I
3. The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention
4. A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism
5. Retrospective Diagnosis of GM1 Gangliosidosis by Use of a Newborn-Screening Card
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1. Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis;Molecular Therapy - Methods & Clinical Development;2024-09
2. Best Practices for Development and Validation of Enzymatic Activity Assays to Support Drug Development for Inborn Errors of Metabolism and Biomarker Assessment;The AAPS Journal;2024-08-23
3. GM1 gangliosidosis type II: Results of a 10-year prospective study;Genetics in Medicine;2024-07
4. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23
5. ScreenPlus: A comprehensive, multi-disorder newborn screening program;Molecular Genetics and Metabolism Reports;2024-03
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