Rare Diseases

Current bibliography for experts

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POMPE

Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)

2022-03-21

Mutational analysis of GAA and muscle biopsy are crucial in the diagnosis of Pompe disease.

GAUCHER

Development and Validation of Gaucher Disease Type 1 (GD1)-Specific Patient-Reported Outcome Measures (PROMs) for Clinical Monitoring and for Clinical Trials

2022-01-06

Development of the ctGD1-PROM represents an important step forward for researchers measuring the impact of GD and its respective treatment.

POMPE

COVID-19 infection in patients with late-onset Pompe disease

2021-12-24

Individuals with late-onset Pompe disease (LOPD) remain at high risk and should receive COVID-19 vaccinations and exercise precautions to avoid exposure to COVID-19 infection.

POMPE

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

2021-05-21

The aim of this study was to identify genetic variations and clinical features in Spanish subjects to establish genotype-phenotype correlation.

POMPE

Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

2021-05-03

In LOPD, this condition can be treated by ERT, but also benefits from concomitant diet and aerobic exercise therapy.

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.

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...