Associated Papers
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L et al.
The Journal of Pediatrics, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R et al.
Scientific Reports, 2019
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Santamaria R et al.
Clinical Genetics, 2007
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