Rare Diseases

Current bibliography for experts

"Absorptiometry" search results...

FABRY

Low skeletal muscle mass as an early sign in children with fabry disease

2023-07-21

Low skeletal muscle mass is a common early symptom in children with Fabry disease (FD), suggesting that skeletal muscle is significantly affected in the early stages of FD.

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).

LIPODISTROFI

Type 1 familial partial lipodystrophy: Understanding the Köbberling syndrome

2016-11-01

This case-controlled study aimed to characterize this syndrome better by evaluating a group of women with phenotypic features of type 1 familial partial lipodystrophy.

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...

I-PAS Academy

I-PAS Academy, of which Gene2Info is one of the sponsors, will be held in Muğla between October 24-26, 2025.

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress, of which Gene2Info is one of the sponsors, will be organized by the Neuromuscul...

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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...