Rare Diseases

Current bibliography for experts

"Skeletal System" search results...

MPS

Evaluation of bone health in patients with mucopolysaccharidosis

2022-01-23

This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D3 (25(OH)D3) level, and dual-energy X-ray absorptiometry (DXA) results in patients diagnosed with mucopolysaccharidosis (MPS).

MPS

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy

2021-11-01

The findings of this study indicate the need for novel treatment methods that target the skeletal system in affected patients.

GAUCHER

Skeletal Involvement in Gaucher Disease: Extent of Bone Disease, Splenic Volume, and Quality of Life

2021-03-01

In Gaucher patients, the possible correlations between the extent of bone involvement, splenic volume, and quality of life were investigated. No correlation was found between the BMB and quality of life scores, this finding highlights Gaucher disease's insidious and silent progression.

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...