Rare Diseases

Current bibliography for experts

"Renal Function" search results...

XLH

Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease

2022-12-01

This article reports a rare case of coexistence of the two genetic conditions, X-linked hypophosphatemic rickets (XLH) and m.3243A>G mitochondrial disease.

FABRY

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

2022-06-20

This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

FABRY

Podocyturia in Fabry disease: A 10-year follow-up

2021-09-16

Podocyturia is considered as a non-invasive early marker of kidney injury in Fabry disease, but it should be kept in mind that podocyturia is a discontinuous event with wide variability.

FABRY

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

2021-08-04

Regardless of treatment status, sex or phenotype, individuals with Fabry disease and amenable GLA variants who received long-term migalastat therapy (≤8.6 years) preserved renal function.

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...