Last Posted: Jan 18, 2024
- Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9 - "Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US.
Karen M Bailey et al. Orphanet J Rare Dis 2023 18(1) 158 - Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests.
Guillaud Olivier et al. Diagnostics (Basel, Switzerland) 2023 13(2) - Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Jia Siyu et al. Journal of clinical laboratory analysis 2022 e24735 - Epidemiology, treatment and burden of Wilson Disease in France: a 10-year analysis of the National Health Insurance Database.
Daniel-Robin Thomas et al. Clinics and research in hepatology and gastroenterology 2022 101992 - Efficacy of Different Diagnostic Test for Identifying Wilson's Disease.
Sonia Z F et al. Mymensingh medical journal : MMJ 2022 31(1) 117-123 - Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia Pascual et al. Journal of pediatric gastroenterology and nutrition 2021 - Wilson Disease in Children; Chelation Therapy or Liver Transplantation? A 10-Year Experience from Pakistan.
Aaraj Sahira et al. Annals of transplantation 2021 26e932606 - Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós Carmen et al. JHEP reports : innovation in hepatology 2020 Aug 2(4) 100114 - Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann Monica et al. JIMD reports 2020 Mar 52(1) 55-62
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.