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Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

https://doi.org/10.1371/journal.pone.0079732

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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Newborn screening for lysosomal storage disorders

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Accumulation of Tissue Glucosylsphingosine in Gaucher-like Mouse Induced by the Glucosylceramidase Inhibitor Cyclophellitol

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Newborn Screening for Lysosomal Storage Disorders in Hungary

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Laboratory and genetic evaluation of Gaucher disease

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Neuropathic Gaucher disease

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Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

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Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention

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Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare

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CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

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Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China

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Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy

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Basic principles of ROC analysis

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PARC/CCL18 Is a Plasma CC Chemokine with Increased Levels in Childhood Acute Lymphoblastic Leukemia

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Actualité et utilité des biomarqueurs pour le suivi de la maladie de Gaucher

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Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms

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The Human Chitotriosidase Gene

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Identification of Biologically Active Chemokine Isoforms from Ascitic Fluid and Elevated Levels of CCL18/Pulmonary and Activation-regulated Chemokine in Ovarian Carcinoma

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Receiver-operating characteristic (ROC) plots: a fundamental evaluation tool in clinical medicine

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Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

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Rapid Method of Preparation of Lysoglycosphingolipids and Their Confirmation by Delayed Extraction Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry

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Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

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Accumulation of Glucosylceramide and Glucosylsphingosine (Psychosine) in Cerebrum and Cerebellum in Infantile and Juvenile Gaucher Disease

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Lysosulfatide (Galactosylsphingosine‐3‐O‐Sulfate) from Metachromatic Leukodystrophy and Normal Human Brain

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Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.

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Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

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Involvement of CC chemokine ligand 18 (CCL18) in normal and pathological processes

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Chitotriosidase Levels in Healthy Elderly Subjects

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Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease

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Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease

inferredcites →https://doi.org/10.1373/clinchem.2006.079012openalex-snapshot

HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma

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Comparing the Areas under Two or More Correlated Receiver Operating Characteristic Curves: A Nonparametric Approach

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Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model

inferred← citeshttps://doi.org/10.1186/s13023-015-0274-1openalex-snapshot

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

inferred← citeshttps://doi.org/10.1186/s13023-022-02549-6openalex-snapshot

An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan

inferred← citeshttps://doi.org/10.1186/s13023-022-02573-6openalex-snapshot

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

inferred← citeshttps://doi.org/10.1186/s13023-023-02623-7openalex-snapshot

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

inferred← citeshttps://doi.org/10.1186/s13023-024-03444-yopenalex-snapshot

Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey

inferred← citeshttps://doi.org/10.1186/s13023-025-03980-1openalex-snapshot

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease

inferred← citeshttps://doi.org/10.1194/jlr.m064923openalex-snapshot

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases

inferred← citeshttps://doi.org/10.1194/jlr.ra119000154openalex-snapshot

Role of μ-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

inferred← citeshttps://doi.org/10.12677/acm.2021.1112846openalex-snapshot

The Clinical Characteristics and Treatment Analysis of Bone Damage in Children with Gaucher Disease

inferred← citeshttps://doi.org/10.1371/journal.pone.0114669openalex-snapshot

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

inferred← citeshttps://doi.org/10.1371/journal.pone.0181700openalex-snapshot

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

inferred← citeshttps://doi.org/10.1371/journal.pone.0227077openalex-snapshot

Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease

inferred← citeshttps://doi.org/10.1371/journal.pone.0238624openalex-snapshot

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

inferred← citeshttps://doi.org/10.1371/journal.pone.0277058openalex-snapshot

Galactosyl- and glucosylsphingosine induce lysosomal membrane permeabilization and cell death in cancer cells

inferred← citeshttps://doi.org/10.1373/clinchem.2014.225771openalex-snapshot

Newborn Screening for Lysosomal Storage Diseases

inferred← citeshttps://doi.org/10.1373/clinchem.2015.245159openalex-snapshot

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

inferred← citeshttps://doi.org/10.1515/cclm-2018-1301openalex-snapshot

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

inferred← citeshttps://doi.org/10.1515/cclm-2019-0949openalex-snapshot

LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population

inferred← citeshttps://doi.org/10.15690/pf.v21i6.2842openalex-snapshot

Modern Clinical Guidelines for the Management of Patients with Gaucher Disease

inferred← citeshttps://doi.org/10.1590/1678-4685-gmb-2018-0159openalex-snapshot

Lysosomal diseases: Overview on current diagnosis and treatment

inferred← citeshttps://doi.org/10.17116/patol20218304156openalex-snapshot

Perinatal lethal Gaucher disease. Case report

inferred← citeshttps://doi.org/10.17925/eoh.2018.14.1.50openalex-snapshot

Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist

inferred← citeshttps://doi.org/10.20453/rmh.v26i2.2447openalex-snapshot

Guía para diagnóstico y tratamiento de la Enfermedad de Gaucher

inferred← citeshttps://doi.org/10.20515/otd.945383openalex-snapshot

Evaluation of Clinical, Biochemical, and Genetic Characteristics and Long-Term Follow up of Adult Patients with Non-Neuronopathic Gaucher’s Disease

inferred← citeshttps://doi.org/10.20517/rdodj.2025.54openalex-snapshot

Recognizing Gaucher disease in the fifth decade and beyond: a retrospective case study in patients of Ashkenazi Jewish descent

inferred← citeshttps://doi.org/10.21037/atm.2018.10.69openalex-snapshot

Biomarker combination is necessary for the assessment of Gaucher disease?

inferred← citeshttps://doi.org/10.2147/ce.s93717openalex-snapshot

Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy

inferred← citeshttps://doi.org/10.2147/dddt.s77760openalex-snapshot

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease

inferred← citeshttps://doi.org/10.2147/tcrm.s388266openalex-snapshot

Obstacles to Early Diagnosis of Gaucher Disease

inferred← citeshttps://doi.org/10.21608/mjvh.2022.234477openalex-snapshot

Gaucher disease: Recent advances in the diagnosis and management.

inferred← citeshttps://doi.org/10.21682/2311-1267-2019-6-4-19-24openalex-snapshot

Gaucher disease in children: what has changed in the 21st century

inferred← citeshttps://doi.org/10.2174/1871530322666220420134935openalex-snapshot

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

inferred← citeshttps://doi.org/10.2214/ajr.15.15294openalex-snapshot

Standardization of MRI and Scintigraphic Scores for Assessing the Severity of Bone Marrow Involvement in Adult Patients With Type 1 Gaucher Disease

inferred← citeshttps://doi.org/10.24911/jbcgenetics/183-1557963984openalex-snapshot

A call for considering biochemical concepts in clinical genetics research

inferred← citeshttps://doi.org/10.32776/revbiomed.v32i3.903openalex-snapshot

Análisis de biomarcadores para el seguimiento de pacientes con enfermedad de Gaucher.

inferred← citeshttps://doi.org/10.33176/aacb-19-00037openalex-snapshot

Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment

inferred← citeshttps://doi.org/10.3324/haematol.2019.236083openalex-snapshot

Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data

inferred← citeshttps://doi.org/10.3389/fped.2024.1352179openalex-snapshot

Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience

inferred← citeshttps://doi.org/10.3390/biom13040644openalex-snapshot

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

inferred← citeshttps://doi.org/10.3390/biom14070842openalex-snapshot

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy

inferred← citeshttps://doi.org/10.3390/cells12010191openalex-snapshot

The Consequences of GBA Deficiency in the Autophagy–Lysosome System in Parkinson’s Disease Associated with GBA

inferred← citeshttps://doi.org/10.3390/chromatography2020167openalex-snapshot

A Hyphenated Technique based on High-Performance Thin Layer Chromatography for Determining Neutral Sphingolipids: A Proof of Concept

inferred← citeshttps://doi.org/10.3390/diagnostics11020320openalex-snapshot

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

inferred← citeshttps://doi.org/10.3390/diagnostics13172812openalex-snapshot

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

inferred← citeshttps://doi.org/10.3390/diseases4040040openalex-snapshot

Biomarkers in Lysosomal Storage Diseases

inferred← citeshttps://doi.org/10.3390/ijms18010183openalex-snapshot

Lipid and Glycolipid Isomer Analyses Using Ultra-High Resolution Ion Mobility Spectrometry Separations

inferred← citeshttps://doi.org/10.3390/ijms18020441openalex-snapshot

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

inferred← citeshttps://doi.org/10.3390/ijms18102192openalex-snapshot

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms20123033openalex-snapshot

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms21072533openalex-snapshot

Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives

inferred← citeshttps://doi.org/10.3390/ijms21072566openalex-snapshot

Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease

inferred← citeshttps://doi.org/10.3390/ijms21134577openalex-snapshot

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

inferred← citeshttps://doi.org/10.3390/ijms21197027openalex-snapshot

Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms21197159openalex-snapshot

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

inferred← citeshttps://doi.org/10.3390/ijms21217869openalex-snapshot

Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach

inferred← citeshttps://doi.org/10.3390/ijms22147699openalex-snapshot

Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations

inferred← citeshttps://doi.org/10.3390/ijms23031627openalex-snapshot

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

inferred← citeshttps://doi.org/10.3390/ijms232213982openalex-snapshot

Brain-Derived Neurotrophic Factor (BDNF) Is Associated with Platelet Activity and Bleeding Tendency in Patients with Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms232314938openalex-snapshot

Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms24043945openalex-snapshot

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms24076732openalex-snapshot

High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy

inferred← citeshttps://doi.org/10.3390/ijms241210177openalex-snapshot

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases

inferred← citeshttps://doi.org/10.3390/ijms241914440openalex-snapshot

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients

inferred← citeshttps://doi.org/10.3390/ijms25052870openalex-snapshot

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

inferred← citeshttps://doi.org/10.3390/ijms252212021openalex-snapshot

Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers

inferred← citeshttps://doi.org/10.3390/ijms26010009openalex-snapshot

Developing Allosteric Chaperones for GBA1-Associated Disorders—An Integrated Computational and Experimental Approach

inferred← citeshttps://doi.org/10.3390/ijms26157641openalex-snapshot

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results

inferred← citeshttps://doi.org/10.3390/ijms27041705openalex-snapshot

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijms27114788openalex-snapshot

From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease

inferred← citeshttps://doi.org/10.3390/ijns3020006openalex-snapshot

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

inferred← citeshttps://doi.org/10.3390/ijns4030023openalex-snapshot

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

inferred← citeshttps://doi.org/10.3390/ijns6020044openalex-snapshot

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

inferred← citeshttps://doi.org/10.3390/ijns6040084openalex-snapshot

Development of Strategies to Decrease False Positive Results in Newborn Screening

inferred← citeshttps://doi.org/10.3390/jcm13102782openalex-snapshot

Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry

inferred← citeshttps://doi.org/10.3390/jcm13113325openalex-snapshot

A Feasibility Open-Labeled Clinical Trial Using a Second-Generation Artificial-Intelligence-Based Therapeutic Regimen in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy

inferred← citeshttps://doi.org/10.3390/jcm14197015openalex-snapshot

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania

inferred← citeshttps://doi.org/10.3390/jcm15072537openalex-snapshot

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies

inferred← citeshttps://doi.org/10.3390/jcm8091420openalex-snapshot

Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease

inferred← citeshttps://doi.org/10.3390/jcm8101662openalex-snapshot

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

inferred← citeshttps://doi.org/10.3390/metabo15110731openalex-snapshot

Gaucher Disease—Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters

inferred← citeshttps://doi.org/10.37275/bsm.v6i9.578openalex-snapshot

Gaucher Disease with Normocytic Normochrome Anemia Manifestation in a 13-Month-Old Baby: A Case Report

inferred← citeshttps://doi.org/10.4062/biomolther.2016.207openalex-snapshot

Glucosylsphingosine Activates Serotonin Receptor 2a and 2b: Implication of a Novel Itch Signaling Pathway

inferred← citeshttps://doi.org/10.4155/bio-2021-0259openalex-snapshot

Lysosphingolipid Urine Screening Test using Mass Spectrometry for the Early Detection of Lysosomal Storage Disorders

inferred← citeshttps://doi.org/10.4155/ppa-2018-0003openalex-snapshot

Patent Highlights From December 2017 to January 2018

inferred← citeshttps://doi.org/10.51248/.v43i02.2700openalex-snapshot

A reappraisal of Gaucher disease patients - Clinical presentation, and diagnosis in rare disease unit of central child teaching hospital in Baghdad province

inferred← citeshttps://doi.org/10.5734/jgm.2020.17.2.62openalex-snapshot

One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I

inferred← citeshttps://doi.org/10.6084/m9.figshare.21500508openalex-snapshot

Additional file 1 of An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan

inferred← citeshttps://doi.org/10.70675/1f82aafdz18ecz4c74z81b2zc9f8d6c601f8openalex-snapshot

Rôle de la phagocytose des globules rouges surchargés en sphingolipides dans la physiopathologie de la maladie de Gaucher

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