Wilson Disease
What's New
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 - Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion.
Valentino Pamela L et al. Journal of pediatric gastroenterology and nutrition 2020 Jan - Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003 - The Prevalence of Wilson disease. An Update.
Sandahl Thomas Damgaard et al. Hepatology (Baltimore, Md.) 2019 Aug - Wilson disease.
Guindi Maha et al. Seminars in diagnostic pathology 2019 Jul - The dilemma to diagnose Wilson disease by genetic testing alone.
Stättermayer Albert Friedrich et al. European journal of clinical investigation 2019 Jun e13147 - Wilson disease-treatment perspectives.
Litwin Tomasz et al. Annals of translational medicine 2019 Apr 7(Suppl 2) S68 - Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
Chen Huey-Ling et al. The Journal of pediatrics 2018 Oct - The global prevalence of Wilson disease from next-generation sequencing data.
Gao Jiali et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M et al. Neurologia (Barcelona, Spain) 2019 May 34(4) 248-258 - CLINGEN Actionability Report for Wilson Disease - ATP7B
ClinGen Actionability Working Group
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
- Page last reviewed:Feb 1, 2024
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