ReviewOrphanet journal of rare diseases2023
Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.
Review in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.Orphanet journal of rare diseases · 2026Pooled it
- Sphingolipids in Gaucher disease: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Integrating Gaucher disease (GD) into mainstream hematological curriculum training.HemaSphere · 2026Article
- The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease.International journal of molecular sciences · 2026Review
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.Orphanet journal of rare diseases · 2026Article
- Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease.International journal of molecular sciences · 2026Article
- Elevated serum glucosylsphingosine level in children with obesity: relation to plasma atherogenesis.International journal of obesity (2005) · 2026Article
- Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China.Journal of clinical medicine · 2026Article
- Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.International journal of molecular sciences · 2026Review
- Urinary extracellular vesicle metabolomic profiling reveals a distinct molecular signature for the non-invasive diagnosis of lupus nephritis.Frontiers in immunology · 2026Article
- Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project.Mediterranean journal of hematology and infectious diseases · 2026Article
- Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS.ACS omega · 2025Article
- Abnormal Splicing ofBiomedicines · 2025Article
- An injectable hydrogel containingRSC advances · 2025Article
- Surrogate Biomarkers in Gene Therapy for Orphan Diseases: Validation, Application, and Regulatory Aspects.International journal of molecular sciences · 2025Review
- Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.Journal of clinical medicine · 2025Article
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Hyperuricaemia in type 1 Gaucher disease: is uric acid a biomarker for disease severity?Internal medicine journal · 2025Article
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring. Chitotriosidase has been used over the last 20 years to assess the severity of GD, but lacks specificity in GD patients. Conversely, the deacylated form of glucosylceramide, glucosylsphingosine (also known as lyso-Gb1), represents a more reliable biomarker characterized by its high sensitivity and specificity in GD. MAIN TEXT: Herein, we review the current literature on lyso-Gb1 and describe evidence supporting its usefulness as a biomarker for diagnosing and evaluating disease severity in GD and monitoring treatment efficacy.
conclusionLyso-Gb1 is the most promising biomarker of GD, as demonstrated by its reliability in reflecting disease burden and monitoring treatment response. Furthermore, lyso-Gb1 may play an important role in the onset of monoclonal gammopathy of uncertain significance, multiple myeloma, and Parkinson's disease in GD patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.