Rare Diseases

Current bibliography for experts

"Metabolik Hastalıklar" search results...

MPS

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

2022-05-27

A variant in the form of IDUA gene deletion may indicate an early severe phenotypic presentation of Mucopolysaccharidosis type I (MPS I).

CTX

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

2020-11-06

This article is a case study that includes a Chinese family with Cerebrotendinous xanthomatosis (CTX) which had one patient and four heterozygous carriers. The clinical, biological, radiological, and genetic characteristics of CTX are summarized in order to aid in early detection and treatment. This study emphasizes that genetic analysis of the CYP27A1 gene should be the gold standard for CTX diagnosis.

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...