Rare Diseases

Current bibliography for experts

"Mps-i" search results...

MPS

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries

2021-05-25

This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America. The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

MPS

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age

2017-06-01

The aim of this study was to assess every effectiveness variable modified in Mucopolysaccharidosis Type I (MPS-I) patients who initiated laronidase at adult age.

News and Events

2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases 2026

The 2nd Symposium on Phenylketonuria and Screening in Metabolic Diseases (FEMETS) will be held on October 23–24, 2026.

European Conference on Human Genetics 2027

The annual ESHG 2027, European Conference on Human Genetics, will be held in Rotterdam, Netherland between 12-15 June 20...

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

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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...