• 8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024
• A case of Fabry disease misdiagnosed for 30 years
• A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant
• A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases
• A rare case of Niemann Pick Disease with a novel variant in the NPC2 gene presenting with neuropsychiatric manifestations in middle age
• A systematic literature review on the health-related quality of life and economic burden of Fabry disease
• A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease
• Acid sphingomyelinase deficiency in France: a retrospective survival study
• Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease
• Advances in the specific treatments of Gaucher disease
• Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease
• Altered GM1 catabolism affects NMDAR-mediated Ca²⁺ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model
• An AAV capsid reprogrammed to bind human transferrin receptor mediates brain-wide gene delivery
• An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients
• Analysis of Globotriaosylceramide (Gb₃) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry
• Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry
• Aseptic meningitis and Fabry disease
• Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
• Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models-Translation to Fabry disease patients
• Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
• Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease
• Creation of an in vitro model of GM1 gangliosidosis by CRISPR/Cas9 knocking-out the GLB1 gene in SH-SY5Y human neuronal cell line
• CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C
• CRISPR/Cas9-based GLA knockout to generate the female Fabry disease human induced pluripotent stem cell line MHHi001-A-15
• Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease
• Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
• Detection of α-Galactosidase A Reaction in Samples Extracted from Dried Blood Spots Using Ion-Sensitive Field Effect Transistors
• Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function
• Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
• Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients
• Dietary Supplementation with n-3 Polyunsaturated Fatty Acids Delays the Phenotypic Manifestation of Krabbe Disease and Partially Restores Lipid Mediator Production in the Brain-Study in a Mouse Model of the Disease
• Early impairment in mitochondrial quality check and function precedes the development of cardiac phenotypes in an mouse model of Fabry Disease
• Effects of Enzyme Replacement Therapy on Cardiac MRI Findings in Fabry Disease: A Systematic Review and Meta-Analysis
• Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
• Endogenous Protein-Protein Interaction Network of the NPC Cholesterol Transporter 1 in the Cerebral Cortex
• Enzyme replacement therapy in Fabry cardiomyopathy: an incomplete treatment
• Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)
• Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism
• Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy
• Exploring the globoid cell leukodystrophy protein network and therapeutic interventions
• Fabry disease Enzyme Enhancement on migalastat Study: FEES
• Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities
• Fabry disease Schwann cells release p11 to induce sensory neuron hyperactivity
• Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy
• Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level
• Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease
• GESUCHT: ASMD (Acid Sphingomyelinase Defiency) Typ-B (vormals Nieman Pick B)
• GM1 gangliosidosis type II: Results of a 10-year prospective study
• Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3
• Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family
• Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers
• In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry
• Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
• Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease
• Inflammation and Exosomes in Fabry Disease Pathogenesis
• Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease
• Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression
• Intracerebroventricular 2-hydroxypropyl-γ-cyclodextrin alleviates hepatic manifestations without distributing to the liver in a murine model of Niemann-Pick disease type C
• Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D
• Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy
• Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
• LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method
• Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease
• Metachromatic leukodystrophy: A story of hope woven from sorrow
• Molecular mechanisms of the ambroxol action in Gaucher disease and GBA1 mutation-associated Parkinson disease
• Multiparametric magnetic resonance imaging of the liver and spleen in Gaucher disease
• Nanoparticles for inducing Gaucher disease-like damage in cancer cells
• Neurological symptoms in adults with Gaucher disease: a systematic review
• New Gene Therapy Changes Treatment Landscape for Metachromatic Leukodystrophy
• New light shed on Anderson-Fabry, peripartum, and early-onset cardiomyopathies
• No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant
• Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye
• Orchard Therapeutics Gains First U.S. Approval for a Metachromatic Leukodystrophy Gene Therapy
• ORMDL mislocalization by impaired autophagy in Niemann-Pick type C disease leads to increased de novo sphingolipid biosynthesis
• Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches
• Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
• Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice
• Phenotypic consequences of GBA1 pathological variant R463C (p.R502C)
• Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln <em>GLA</em> Variant in Anderson-Fabry Disease
• Plasma and platelet lipidome changes in Fabry disease
• Plot thickens: the progression of left ventricular 'hypertrophy' in Fabry disease
• Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
• Prognostic Implications of Left Ventricular Hypertrophy and Mechanical Function in Fabry Disease: A Longitudinal Cohort Study
• Promyelinating drugs ameliorate oligodendrocyte pathologies in a mouse model of Krabbe disease
• Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)
• Rapidly progressive cognitive impairment resulting in heavy psychosocial burden in a patient with Fabry disease undergoing hemodialysis: a case report
• Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review
• Spastic quadriparesis in Fabry disease: A diagnostic challenge
• Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature
• Sterol O-Acyltransferase 1 (<em>SOAT1</em>): A Genetic Modifier of Niemann-Pick Disease, Type C1
• Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
• Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening
• Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models
• The annotation of <em>GBA1</em> has been concealed by its protein-coding pseudogene <em>GBAP1</em>
• The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
• The Missense Variant in the Signal Peptide of <em>α-GLA</em> Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway's Activation
• The Relationship between Serum TWEAK Levels and Carotid Intima-media Thickness in Patients with Fabry Disease
• The role of podocyte injury in the pathogenesis of Fabry disease nephropathy
• Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany
• Usefulness of antibody-drug conjugate as preconditioning for hematopoietic stem cell-targeted gene therapy in wild-type and Fabry disease mouse models