Rare Diseases

Current bibliography for experts

"Lyso-gb1" search results...

GAUCHER

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

2023-04-03

This is a comprehensive study regarding the two most disease-specific biomarkers, glucosylsphingosine (Lyso-Gb1) and α-synuclein for Gaucher disease (GD) and Parkinson's disease (PD), respectively.

GAUCHER

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

2022-01-30

A paradigm change may be considered for the diagnosis of Gaucher disease based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in dried blood spot.

GAUCHER

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

2020-09-28

The importance of glucosylsphingosine (lyso-Gb1) was assessed in this systematic literature review, as a biomarker for the diagnosis, prognosis, and disease / treatment monitoring of patients with GD. Lyso-Gb1 was found to be a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Although some evidence supports lyso-Gb1 as a disease-monitoring and prognostic biomarker, further study is required.

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