Rare Diseases

Current bibliography for experts

"Lipid Metabolism" search results...

CTX

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

2022-10-16

This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

FABRY

Dysregulated DNA methylation in the pathogenesis of Fabry disease

2022-09-26

This study provides evidence that α-galactosidase A deficiency and glycosphingolipid storage may affect DNA methylation homeostasis and highlights the importance of epigenetics in the pathogenesis of Fabry disease.

FABRY

Ion channels and pain in Fabry disease

2021-12-01

Ion channel alterations could provide targets for improved therapies in pain for Fabry disease patients.

FABRY

Current and experimental therapeutics for Fabry disease

2021-09-01

The focus of this review is describing the in vitro and the in vivo experimental models of Fabry disease, to highlight the relevance in improving the existing therapeutics and understand the mechanism of this rare disorder.

XLSD

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers

2021-01-01

Phase 1 studies were conducted in healthy volunteers to determine venglustat pharmacokinetics, pharmacodynamics, safety, and tolerability. Venglustat demonstrated a favorable safety and tolerability profile.

CTX

Cerebrotendinous xanthomatosis: A report of 3 cases

2020-10-16

In this article, three cases of cerebrotendinous xanthomatosis with similar clinical symptoms are presented to demonstrate the necessity of early diagnosis.

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...