Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

Novel Galactosidase-Beta-1 Variant in Infantile GM1 Gangliosidosis: A Case Report.

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.

AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.

Bioresponsive MR Imaging Probes for Noninvasive Monitoring of AAV Gene Therapy.

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1.

Lentiviral hematopoietic stem cell gene therapy ameliorates GM1-gangliosidosis in mice.

A novel HEXA frameshift mutation identified in Angus cattle with GM2 gangliosidosis.

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study.

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent IDUA Allele in Colombia.

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Neuroimaging Spectrum of GM1 Gangliosidosis with Description of Novel Imaging Signs.

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of GM1-gangliosidosis.

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial.

β-Galactosidase inhibition explored by biochemical methods and in silico studies for plant polyphenols.

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases.

Corrigendum: Infection of a β-galactosidase-deficient mouse strain with Theiler's murine encephalomyelitis virus reveals limited immunological dysregulations in this lysosomal storage disease.

Brain Age Prediction in Type II GM1 Gangliosidosis.

Infection of a β-galactosidase-deficient mouse strain with Theiler's murine encephalomyelitis virus reveals limited immunological dysregulations in this lysosomal storage disease.

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis.

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Adeno-associated virus expressing a blood-brain barrier-penetrating enzyme improves GM1 gangliosidosis in a preclinical model.

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report.

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.

A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases.

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene.

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease.

Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients.

Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing.

Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cells.

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis.

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model.

Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications.

Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation.

Creation of an in vitro model of GM1 gangliosidosis by CRISPR/Cas9 knocking-out the GLB1 gene in SH-SY5Y human neuronal cell line.

Therapeutic developments for neurodegenerative GM1 gangliosidosis.

Inherited metabolic disorders in Cyprus.

GM1 gangliosidosis type II: Results of a 10-year prospective study.

Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model.

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.

Morquio B disease: a case report.

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis.

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.

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.

A Strategic Translational Research System for Drug Discovery in Tottori University.

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.

The development of a broad-spectrum retaining β-exo-galactosidase activity-based probe.

Mongolian spots in a sick patient-A diagnosis of infantile GM1 gangliosidosis.

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.

Altered GM1 catabolism affects NMDAR-mediated Ca 2+ signaling at ER-PM junctions and increases synaptic spine formation.

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.

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

Ganglioside GM1 and the Central Nervous System.

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.

Fetal Homozygous GM1 Gangliosidosis Presenting as Transient Non-immune Hydrops Fetalis.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

GM1 gangliosidosis: patients with different phenotypic features and novel mutations.

Gene Therapy of Sphingolipid Metabolic Disorders.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.

The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.

GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.

Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.

β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.

AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates.

Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis.

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.

Abnormal DaTscan in GM1-Gangliosidosis Type III Manifesting with Dystonia-Parkinsonism.

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.

Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan.

Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis.

[Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis].

Rare Diseases in Glycosphingolipid Metabolism.

AAV9-coGLB1 Improves Lysosomal Storage and Rescues Central Nervous System Inflammation in a Mutant Mouse Model of GM1 Gangliosidosis.

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.

Late-infantile GM1 gangliosidosis: A case report.

Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.

Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study.

[Increased use of genetic health care in Iceland 2012-2017].

Phenotypical changes of satellite glial cells 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.

Chitotriosidase as a biomarker for gangliosidoses.

GM1 Gangliosidosis-A Mini-Review.

Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism.

GM1-Gangliosidosis Type III Associated Parkinsonism.

White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy.

Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis.

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.

A 7-month-old boy with failure to thrive.

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.

Structure of the murine lysosomal multienzyme complex core.

GM1 Gangliosidosis: Mechanisms and Management.

Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis.

Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.

Morquio B disease: From pathophysiology towards diagnosis.

A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

The juvenile gangliosidoses: A timeline of clinical change.

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

A Single Injection of an Optimized Adeno-Associated Viral Vector into Cerebrospinal Fluid Corrects Neurological Disease in a Murine Model of GM1 Gangliosidosis.

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine.

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency.

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.

Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.

Utility of metabolic screening in neurological presentations of infancy.

Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation.

Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis.

An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies.

7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy.

The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.

Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

Characterization of glycan substrates accumulating in GM1 Gangliosidosis.

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Progressive dystonia as a presenting manifestation of GM1 gangliosidosis.

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis.

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis.

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis].

[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].

Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases.

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.

Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis.

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).

Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis.

4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations.

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.

Intracellular Delivery of β-Galactosidase Enzyme Using Arginase-Responsive Dextran Sulfate/Poly-l-arginine Capsule for Lysosomal Storage Disorder.

Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis.

Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis.

Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle.

Mitochondria-associated membranes in aging and senescence: structure, function, and dynamics.

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Lysosomal storage diseases.

Polyethylene glycol-b-poly(lactic acid) polymersomes as vehicles for enzyme replacement therapy.

Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.

Rapid Targeted Genomics in Critically Ill Newborns.

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

Infantile gangliosidoses: Mapping a timeline of clinical changes.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.

Peripheral blood findings in GM1 gangliosidosis.

Mongolian Spots in GM1 Gangliosidosis.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

(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.

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015).

Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.

Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients.

Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.

High-throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells.

Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.

Vacuolated lymphocytes signifying a metabolic disorder in an infant with developmental delay.