Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

Abstract excerpt

Krabbe disease (KD) is a rare disease caused by the deficiency of β-galactocerebrosidase. This study investigated 22 unrelated Chinese patients, including their clinical presentations, plasma psychosine levels and β-galactocerebrosidase gene mutations. We found the late-onset form of KD present in 82% of the patients in our study, which was more prevalent than in patients from other populations. Plasma psychosine...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Age of Onset
• Share to Exons
• Share to Galactosylceramidase