Rare Diseases

Current bibliography for experts

"Gaze Palsy" search results...

NIEMANN-PICK

Clinical disease characteristics of patients with NiemannPick Disease Type C

2022-02-14

The collection of on-going large-scale Niemann-Pick Disease Type C (NPC) clinical data may generate better understandings of the natural history of the disease. This study reports NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

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)

GAUCHER

The definition of neuronopathic Gaucher disease

2021-08-02

In this article, the various forms of Gaucher disease are defined with particular emphasis on the presence of gaze palsy in all patients with Neuronopathic Gaucher disease (nGD).

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...

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World Orphan Drug Congress 2025

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