Rare Diseases

Current bibliography for experts

"Niemann-pick Hastalığı Tip B" search results...

NIEMANN-PICK

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD)

2020-09-01

This is a 26-week phase 1b trial of enzyme replacement therapy (ERT) with olipudase alfa, which was followed by a long-term extension study. 5 adult patients with chronic visceral ASMD were enrolled in this trial. The findings show that hepatic clearance of sphingomyelin during olipudase alfa treatment for 42 months is associated with overall lipid profile improvements in ASMD patients.

ASMD

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

2020-05-15

In this review, clinically important endpoints as well as biochemical and imaging markers of ASMD are discussed and potential new biomarkers are identified.

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...

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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...