Associated Papers
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.
Menkovic I et al.
Molecular Genetics and Metabolism Reports, 2025
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
Wen W et al.
Journal of Medical Genetics, 2024
38724173 (PubMed )
Supplement: jmg-2023-109667supp006.xlsx › Sheet1
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Vieira SRL et al.
Frontiers in Neurology, 2021
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.
Barkhuizen M et al.
Neurochemistry International, 2016
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D et al.
Clinical Genetics, 2010
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.
Brunetti-Pierri N et al.
Journal of Child Neurology, 2008
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Caciotti A et al.
Human Mutation, 2007
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
Santamaria R et al.
Human Mutation, 2006
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T et al.
Human Mutation, 2004
Select a paper to view details