Rare Diseases

Current bibliography for experts

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POMPE

Phenotypic Implications of Pathogenic Variant Types in Pompe Disease

2021-05-11

In Pompe disease, it is crucial to figure out whether enzyme activity or the type of pathogenic genetic variant in GAA best predicts phenotypic severity. Complete genetic, cardiac, and neurological examinations are critical for newly identified Pompe disease patients.

POMPE

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

2019-11-01

This study reports the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry. These data provide new information about the distribution of GAA variants globally and across the clinical spectrum, provide a first indication of the severity of novel variants, and assist in diagnostic practice and outcome prediction.

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...