Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Orphanet journal of rare diseases - 19 May 2021
Bley Annette, Denecke Jonas, Kohlschütter Alfried, Schön Gerhard, Hischke Sandra, Guder Philipp, Bierhals Tatjana, Lau Heather, Hempel Maja, Eichler Florian S
Abstract excerpt
BACKGROUND: Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospectively in 23 CD patients. Results were compared with data of CD patients reported in three prior large series. Kaplan Meier survival analysis including log rank...
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