AIMC Topic: Hepatolenticular Degeneration

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Explainable machine learning model predicting neurological deterioration in Wilson's disease via MRI radiomics and clinical features.

Parkinsonism & related disorders Jun 4, 2025
BACKGROUND: This study aims to build a machine learning (ML) model to predict the deterioration of neurological symptoms in Wilson's disease (WD) patients during short-term anti-copper therapy. The model combines brain T1WI MRI radiomics with clinica...
Male Disease Progression Radiomics Magnetic Resonance Imaging Hepatolenticular Degeneration Child Adolescent Female Adult Young Adult Machine Learning Brain Humans
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WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

PloS one May 17, 2024
BACKGROUND: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Asso...
Algorithms Deep Learning Humans Copper-Transporting ATPases Hepatolenticular Degeneration High-Throughput Nucleotide Sequencing Genetic Variation
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Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence.

Biomolecules Aug 20, 2021
WD is caused by variants disrupting copper efflux resulting in excessive copper accumulation mainly in liver and brain. The diagnosis of WD is challenged by its variable clinical course, onset, morbidity, and variant type. Currently it is diagnosed...
Copper-Transporting ATPases Ceruloplasmin Hepatolenticular Degeneration Medical Informatics Glutamic Acid DNA, Mitochondrial Neural Networks, Computer Female Principal Component Analysis Artificial Intelligence Male Liver Humans Phenotype Adult Diagnosis, Computer-Assisted Mutation Brain Middle Aged Algorithms Copper Fuzzy Logic
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Wilson disease tissue classification and characterization using seven artificial intelligence models embedded with 3D optimization paradigm on a weak training brain magnetic resonance imaging datasets: a supercomputer application.

Medical & biological engineering & computing Feb 5, 2021
Wilson's disease (WD) is caused by copper accumulation in the brain and liver, and if not treated early, can lead to severe disability and death. WD has shown white matter hyperintensity (WMH) in the brain magnetic resonance scans (MRI) scans, but th...
Reproducibility of Results Artificial Intelligence Magnetic Resonance Imaging Humans Brain Hepatolenticular Degeneration
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Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.

Frontiers in bioscience (Elite edition) Jun 1, 2019
Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analy...
Hepatolenticular Degeneration Deep Learning Humans Copper-Transporting ATPases
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