Rare Diseases

Current bibliography for experts

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MPS

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

2022-09-01

This study presents the status of variant alleles and biochemistry results found in infants suspected of having MPS I, II, IVA, and VI.

MPS

Differences in MPS I and MPS II Disease Manifestations

2021-07-23

While enzyme replacement therapy (ERT) has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of MPS II patients, it does not significantly affect CNS manifestations. Therefore, many experimental therapies aim to prevent neurocognitive decline in these patients.

MPS

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement

2021-01-29

There are two types of the Mucopolysaccharidosis type I (MPS I) disease: severe form (Hurler syndrome) and attenuated form (Hurler-Scheie, Scheie). Current treatments can partially prevent, but not significantly improve, clinical manifestations, necessitating early diagnosis of disease and commencement of treatment.

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...