Rare Diseases

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LIPODISTROFI

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

2020-03-19

This study highlights the importance of early diagnosis in patients with lipodystrophy, although there is no definitive treatment for this disorder. It is emphasized that effective strategies should be developed to overcome the difficulties in the management of lipodystrophy in children and adolescents.

GAUCHER

Endocrine and metabolic disorders in patients with Gaucher disease type 1: A review

2019-12-02

Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

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...

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress will be organized by the Neuromuscular Diseases Research Association between Sep...

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...

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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...