• A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
• A Strategic Translational Research System for Drug Discovery in Tottori University
• Altered GM1 catabolism affects NMDAR-mediated Ca (2+) signaling at ER-PM junctions and increases synaptic spine formation
• Altered GM1 catabolism affects NMDAR-mediated Ca ²⁺ signaling at ER-PM junctions and increases synaptic spine formation
• Altered GM1 catabolism affects NMDAR-mediated Ca(2+) signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Biallelic pathogenic variants in <em>POLR3D</em> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
• Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
• Congenital Heart Malformations Masked by Infantile Gangliosidosis-Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies
• Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <em>POLR3A</em>, <em>POLR3B</em> and <em>POLR1C</em>
• Creation of an in vitro model of GM1 gangliosidosis by CRISPR/Cas9 knocking-out the GLB1 gene in SH-SY5Y human neuronal cell line
• Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
• Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
• Extensive Telangiectasias and Mongolian Spots: A Clue towards GM1-Gangliosidosis
• Fetal Homozygous GM1 Gangliosidosis Presenting as Transient Non-immune Hydrops Fetalis
• From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis
• Ganglioside GM1 and the Central Nervous System
• Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies
• Gene Therapy of Sphingolipid Metabolic Disorders
• Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients
• GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography
• GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study
• GM1 gangliosidosis type II: Results of a 10-year prospective study
• GM1 gangliosidosis: patients with different phenotypic features and novel mutations
• Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
• Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
• Inherited metabolic disorders in Cyprus
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• Mongolian spots in a sick patient-A diagnosis of infantile GM1 gangliosidosis
• Morquio B disease: a case report
• Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019
• Plasma G_M2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
• Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis
• Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing
• The development of a broad-spectrum retaining β-exo-galactosidase activity-based probe
• The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
• Therapeutic developments for neurodegenerative GM1 gangliosidosis
• Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors
• Wishbone Sign in GM1 Type III Gangliosidosis