Disease: Gangliosidosis generalized GM1- type 1
- 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 <sup>2+</sup> 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>
- 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 > 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
- Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and <em>C</em>-5a-Substituted Derivatives of 4-<em>epi</em>-Isofagomine
- 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<sub>M1</sub> -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<sub>M1</sub> -gangliosidosis
- Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
- Plasma G<sub>M2</sub> 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
- Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased <sup>1</sup>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
- 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