Rare Diseases

Current bibliography for experts

"Neuropathic Pain" search results...

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

Fabry disease: Genetics, pathology, and treatment

2020-01-13

Genetic analysis in search of mutation for Fabry Disease is the gold standard for diagnosis, in addition to family history. It is considered that specialized treatment should begin as soon as a diagnosis is made, as this can change the disease prognosis.

FABRY

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

2019-08-01

This article emphasizes the importance of early diagnosis and treatment of Fabry disease for preventing organ damage, morbidity, and premature mortality in adulthood.

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.

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...