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Genetic Diseases, X-Linked

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Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

Journal of biochemistry
We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas...

Predicting brain structural network using functional connectivity.

Medical image analysis
Uncovering the non-trivial brain structure-function relationship is fundamentally important for revealing organizational principles of human brain. However, it is challenging to infer a reliable relationship between individual brain structure and fun...

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.

Scientific reports
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable sensor-based...