Rare Diseases

Current bibliography for experts

"Meta-analysis" search results...

GAUCHER

Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis

2022-07-22

This is the first comprehensive systematic review that presented quantitative data of Gaucher disease (GD) global epidemiology.

FABRY

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and MetaAnalysis

2022-01-01

This meta-analysis is performed according to previous studies to review the benefit of ERT for LVH improvement in Fabry patients. Based on the currently available data, this meta-analysis showed that there are beneficial effects on LVH improvement with ERT in Fabry disease patients.

MPS

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age

2017-06-01

The aim of this study was to assess every effectiveness variable modified in Mucopolysaccharidosis Type I (MPS-I) patients who initiated laronidase at adult age.

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

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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...