Rare Diseases

Current bibliography for experts

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FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

FABRY

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

2021-02-23

The diagnosis and staging of FD-related cardiac diseases have improved thanks to advances in imaging techniques, suggesting that myocardial inflammation plays a significant role in the development of the disease.

POMPE

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

2020-07-15

Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

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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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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...