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.

News and Events

2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases 2026

The 2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases (FEMETS) will be held on October 23–24, 2026.

European Conference on Human Genetics 2027

The annual ESHG 2027, European Conference on Human Genetics, will be held in Rotterdam, Netherland between 12-15 June 20...

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

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Gene2info provides genetic diagnoce service for 23 of rare diseases

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