Associated Papers
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR et al.
Jbmr Plus, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.
Marchelli G et al.
Journal of Pediatric Orthopedics, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective study.
D'Souza P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Congenital Heart Malformations Masked by Infantile Gangliosidosis-Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies.
Mîndru DE et al.
Diagnostics (basel, Switzerland), 2024
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis.
Zagaynova VA et al.
Frontiers in Genetics, 2024
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.
Allende ML et al.
Journal of Lipid Research, 2023
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors.
Rudinskiy M et al.
Plos One, 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.
Capitini C et al.
Biomedicines, 2022
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S et al.
Jimd Reports, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Kingma SDK et al.
Jimd Reports, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Zanetti A et al.
The Journal of Molecular Diagnostics : Jmd, 2020
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM et al.
Molecular Genetics and Metabolism, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G et al.
Jimd Reports, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
Characterization of glycan substrates accumulating in GM1 Gangliosidosis.
Lawrence R et al.
Molecular Genetics and Metabolism Reports, 2019
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
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
Giugliani L et al.
Jimd Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Feng Y et al.
Metabolic Brain Disease, 2018
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.
Zubaida B et al.
Journal of Genetics, 2018
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S et al.
European Journal of Medicinal Chemistry, 2017
Bone mineral density in mucopolysaccharidosis IVB.
Kubaski F et al.
Molecular Genetics and Metabolism Reports, 2016
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
Regier DS et al.
American Journal of Medical Genetics. Part A, 2016
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.
Kannebley JS et al.
Jimd Reports, 2015
Carrier rates of four single-gene disorders in Croatian Bayash Roma.
Barešić A et al.
Genetic Testing and Molecular Biomarkers, 2014
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
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Sperb F et al.
Gene, 2013
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
Moore T et al.
Jimd Reports, 2013
[Structural basis for β-galactosidase associated with lysosomal disease].
Shimizu T
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2013
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.
Coutinho MF et al.
Clinical Genetics, 2012
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
Population analysis of the GLB1 gene in South Brazil.
Baiotto C et al.
Genetics and Molecular Biology, 2011
Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex.
Kreutzer R et al.
Biochimica Et Biophysica Acta, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D et al.
Human Mutation, 2009
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.
Gucev ZS et al.
American Journal of Medical Genetics. Part A, 2008
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R et al.
Journal of Lipid Research, 2007