Associated Papers
Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.
Guan X et al.
Orphanet Journal of Rare Diseases, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 2025
40761701 (PubMed )
Supplement: mmc1.docx
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
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