• A 7-month-old boy with failure to thrive
• A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis
• A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy
• A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
• A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
• A Single Injection of an Optimized Adeno-Associated Viral Vector into Cerebrospinal Fluid Corrects Neurological Disease in a Murine Model of GM1 Gangliosidosis
• A Strategic Translational Research System for Drug Discovery in Tottori University
• AAV9-coGLB1 Improves Lysosomal Storage and Rescues Central Nervous System Inflammation in a Mutant Mouse Model of GM1 Gangliosidosis
• AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates
• Abnormal DaTscan in GM1-Gangliosidosis Type III Manifesting with Dystonia-Parkinsonism
• 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
• Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis
• Biallelic pathogenic variants in <em>POLR3D</em> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
• Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan
• Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
• Chitotriosidase as a biomarker for gangliosidoses
• Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
• Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism
• 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
• Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
• Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders
• Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis
• Erratum: Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis
• Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States
• Examination of a blood-brain barrier targeting beta-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
• Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of 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
• Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C
• From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis
• Ganglioside GM1 and the Central Nervous System
• Gangliosides in nervous system development, regeneration, and pathologies
• Gene Editing Corrects <em>In Vitro</em> a G &gt; A <em>GLB1</em> Transition from a GM1 Gangliosidosis Patient
• Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient
• Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies
• Gene Therapy of Sphingolipid Metabolic Disorders
• Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis
• 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-A Mini-Review
• GM1 Gangliosidosis: Mechanisms and Management
• GM1 gangliosidosis: patients with different phenotypic features and novel mutations
• GM1-Gangliosidosis Type III Associated Parkinsonism
• GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat
• Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis
• 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
• Increased use of genetic health care in Iceland 2012-2017
• Inherited metabolic disorders in Cyprus
• Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis
• Landing disease: a surprising cytological diagnosis on day 2 of life
• Late-infantile GM1 gangliosidosis: A case report
• Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India
• Mongolian spots in a sick patient-A diagnosis of infantile GM1 gangliosidosis
• Mongolian spots in GM1 gangliosidosis: a pictorial report
• Morquio B disease: a case report
• Morquio B disease: From pathophysiology towards diagnosis
• Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct <em>GLB1</em>-Related Dysostosis Multiplex
• Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <em>GLB1</em>-related phenotype
• Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019
• Pharmacological Chaperones for beta-Galactosidase Related to G(M1) -Gangliosidosis and Morquio B: Recent Advances
• Pharmacological Chaperones for β-Galactosidase Related to G_M1 -Gangliosidosis and Morquio B: Recent Advances
• Phenotypical changes of satellite glial cells in a murine model of G(M1) -gangliosidosis
• Phenotypical changes of satellite glial cells in a murine model of G_M1 -gangliosidosis
• Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
• Plasma G_M2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
• Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
• Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study
• Preclinical Enzyme Replacement Therapy with a Recombinant beta-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis
• Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis
• Progressive dystonia as a presenting manifestation of GM1 gangliosidosis
• Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased (1)H NMR-Linked Metabolomics Strategy
• Rare Diseases in Glycosphingolipid Metabolism
• Real-time MR tracking of AAV gene therapy with betagal-responsive MR probe in a murine model of GM1-gangliosidosis
• Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis
• Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis
• Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
• Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing
• Structure of the murine lysosomal multienzyme complex core
• Synthesis of a New beta-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis
• Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis
• The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders
• 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
• The juvenile gangliosidoses: A timeline of clinical change
• 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
• White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy
• Wishbone Sign in GM1 Type III Gangliosidosis
• β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy