Rare Diseases

Current bibliography for experts

"Age Of Onset" search results...

NMDS

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review

2022-01-01

This review illustrated that patients with early childhood-onset disease tend to have faster progression to loss of ambulation than those with late childhood- or adult-onset disease, particularly in LGMDR9.

NIEMANN-PICK

A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C

2021-09-01

In this study, ocular motor function is investigated in patients with Niemann-Pick disease type C (NPC)

POMPE

Pompe disease: Pathogenesis, molecular genetics and diagnosis

2020-08-03

Early detection is critical for preventing or reducing the permanent organ damage that comes with Pompe disease (PD) progression. Pathogenesis, clinical phenotypes, molecular genetics, diagnosis and treatments about PD are covered in this article.

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

2019-07-01

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

CTX

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

2018-07-04

Highlights: The object of this study was to determine neurological progression in CTX. We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.

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...

All News

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...