ArticleMolecular genetics and metabolism reports2021
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease.
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 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
- Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.International journal of molecular sciences · 2026Review
- Noncovalent crown ether-assisted separation of stereoisomeric glycosphingosines using cyclic ion mobility spectrometry.Analytical and bioanalytical chemistry · 2025Article
- Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.Molecular genetics and metabolism reports · 2025Article
- Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.Children (Basel, Switzerland) · 2025Article
- An Overview of Gaucher Disease.Diagnostics (Basel, Switzerland) · 2024Review
- Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.JIMD reports · 2024Article
- Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.Biomolecules · 2024Article
- 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.International journal of molecular sciences · 2024Article
- A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry.Molecular genetics and metabolism reports · 2023Article
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.International journal of molecular sciences · 2023Article
- Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.Orphanet journal of rare diseases · 2023Review
- Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.Frontiers in molecular neuroscience · 2022Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation.
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Registered trials
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