Disease: Sphingolipidosis
- <em>GLA</em> Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease
- A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
- A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
- A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
- A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease
- A systematic review on the birth prevalence of metachromatic leukodystrophy
- Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
- Advancements in Viral Gene Therapy for Gaucher Disease
- Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis
- Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series
- Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease
- An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients
- Anderson-Fabry disease management: role of the cardiologist
- Assessing brain involvement in Fabry disease with deep learning and the brain-age paradigm
- Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data
- Atidarsagene autotemcel for metachromatic leukodystrophy
- Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort
- Bone pain and spleno- megaly: Gaucher's disease
- Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening
- Chinese expert consensus on the diagnosis and treatment of adult Fabry disease cardiomyopathy
- Chronic Rapamycin administration via drinking water mitigates the pathological phenotype in a Krabbe disease mouse model through autophagy activation
- Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
- Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy
- Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report
- Diet and Physical Activity in Fabry Disease: A Narrative Review
- Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy
- Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann-Pick Disease Type C
- Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease
- Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease
- Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
- Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing
- Exosome Secretion and Cellular Signaling Change in a Fabry Disease Cell Model Induced by Gene-silencing
- Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
- Fabry disease in W162C mutation: a case report of two patients and a review of literature
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations
- Fabry disease Schwann cells release p11 to induce sensory neuron hyperactivity
- Fabry Disease: Cardiac Implications and Molecular Mechanisms
- Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level
- Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant
- Gaucher Disease: A First Reported Adult Case in Indonesia
- GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
- GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice
- Genetic analysis of a case with Adult-onset globoid cell leukodystrophy
- Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease
- Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree
- Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients
- Glucosylceramide accumulation in microglia triggers STING-dependent neuroinflammation and neurodegeneration in mice
- Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
- Identification of ß-Glucocerebrosidase Activators for Glucosylceramide hydrolysis
- Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos
- Impact of miR-29c-3p in the Nucleus Accumbens on Methamphetamine-Induced Behavioral Sensitization and Neuroplasticity-Related Proteins
- Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
- Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
- Infertility in Fabry's Disease: role of hypoxia and inflammation in determining testicular damage
- Inflammation and Exosomes in Fabry Disease Pathogenesis
- Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders
- Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
- Left atrial structural and functional remodelling in Fabry disease and cardiac amyloidosis: A comparative analysis
- Lessons learned from the Canadian Fabry Disease Initiative for future risk-sharing and managed access agreements for pharmaceutical and advanced therapies in Canada
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
- Lithium treatment rescues dysfunctional autophagy in the cell models of Tay-Sachs disease
- Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy
- Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C
- Lysosomal storage, impaired autophagy and innate immunity in Gaucher and Parkinson's diseases: insights for drug discovery
- Metachromatic leukodystrophy: A story of hope woven from sorrow
- miRNAs, PICP, and Extent of Cardiac Damage in Patients With Fabry Disease
- Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1
- Multivalent pyrrolidines acting as pharmacological chaperones against Gaucher disease
- New Antibodies to Advance Glucocerebrosidase Research
- New light shed on Anderson-Fabry, peripartum, and early-onset cardiomyopathies
- Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
- Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
- Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature
- Orchard Therapeutics Gains First U.S. Approval for a Metachromatic Leukodystrophy Gene Therapy
- Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
- Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln <em>GLA</em> Variant in Anderson-Fabry Disease
- Posterior Segment Changes in Gaucher Disease
- Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
- Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry
- Pulmonary Involvement of Niemann-Pick Disease
- Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review
- Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
- Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study
- Regression of smoldering myeloma with treatment of Gaucher disease
- Reply: miRNAs, PICP, and Extent of Cardiac Damage in Patients With Fabry Disease
- Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study
- Right heart and left atrial strain to differentiate cardiac amyloidosis and Fabry disease
- Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi - A retrospective chart review
- Sterol O-Acyltransferase 1 (<em>SOAT1</em>): A Genetic Modifier of Niemann-Pick Disease, Type C1
- The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
- The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
- The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
- Therapeutic Strategy for Fabry Disease by Intravenous Administration of Adeno-Associated Virus 9 in a Symptomatic Mouse Model
- Trial of <em>N</em>-Acetyl-l-Leucine in Niemann-Pick Disease Type C
- Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data
- Vericiguat improves cardiac function and microcirculation of a male patient with Fabry disease: A case report
- What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management
- What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview