Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis

Author:

Quadrini Karen J.,Vrentas Catherine,Duke Christian,Wilson Chris,Hinderer Christian J.,Weinstein David A.,Al-Zaidy Samiah A.,Browne Susan E.,Wilson James M.,Ni Yan G.ORCID

Publisher

Elsevier BV

Reference34 articles.

1. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects;Brunetti-Pierri;Mol. Genet. Metabol.,2008

2. The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis;Lang;Mol. Genet. Metabol.,2020

3. Infantile gangliosidoses: Mapping a timeline of clinical changes;Jarnes Utz;Mol. Genet. Metabol.,2017

4. Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease;Okumiya;Mol. Genet. Metabol.,2003

5. Characterization of glycan substrates accumulating in GM1 Gangliosidosis;Lawrence;Mol. Genet. Metab. Rep.,2019

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