Rare Diseases

Current bibliography for experts

LIPODISTROFI

LIPODISTROFI

Molecular and Cellular Bases of Lipodystrophy Syndromes

2022-01-03

In this study, the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy are discussed.

LIPODISTROFI

Complications of lipodystrophy syndromes

2021-11-10

Lipodystrophy leads to severe metabolic problems. Metabolic abnormalities can be present at the time of diagnosis or may develop over time as the disease progresses

LIPODISTROFI

Effect of Leptin Therapy on Survival in Generalized and Partial Lipodystrophy: A Matched Cohort Analysis

2021-07-13

Metreleptin therapy was associated with a reduction in mortality risk in patients with lipodystrophy syndromes despite greater disease severity in treated patients, supporting the view that metreleptin can have a positive disease-modifying impact.

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.

LIPODISTROFI

Type 1 familial partial lipodystrophy: Understanding the Köbberling syndrome

2016-11-01

This case-controlled study aimed to characterize this syndrome better by evaluating a group of women with phenotypic features of type 1 familial partial lipodystrophy.

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...

European Congress on Rare Diseases and Orphan Drugs

One of the leading events in the field of rare diseases and orphan drugs, the European Congress on Rare Diseases and Orp...

I-PAS Academy

I-PAS Academy, of which Gene2Info is one of the sponsors, will be held in Muğla between October 24-26, 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...