Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Shoko KomatsuzakiMatthias ZielonkaWilliam K MountfordStefan KölkerGeorg F HoffmannSven F GarbadeMarkus Ries

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

We define the estimated survival in published Krabbe disease cases and demonstrate an association of CSF protein concentration with disease severity. These data inform patient care and clinical trials.

Keyphrases

clinical trial
high resolution
electronic health record
big data
systematic review
machine learning
binding protein
artificial intelligence
deep learning
free survival
amino acid
study protocol