Rare Diseases

Current bibliography for experts

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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.

ASMD

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

2017-02-23

While knowledge about ASMD is evolving, more evidence about ASMD and the natural history across the disease spectrum is needed, to improve disease recognition, timely diagnosis and appropriate disease management.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...