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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Last data update: Apr 25, 2024
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"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
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The effect of circulating zinc, selenium, copper and vitamin K1 on COVID-19 outcomes: a Mendelian randomization study
MK Sobczyk et al, MEDRXIV, October 19, 2021
Estimating the clinical prevalence of Wilson's disease in the UK.
Wijayasiri Pramudi et al. JHEP reports : innovation in hepatology 2021 3(5) 100329
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Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study.
Tsilidis Konstantinos K et al. The American journal of clinical nutrition 2021
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Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Bernard Emilien et al. International journal of molecular sciences 2020 Sep 21(18)
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CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Acrodermatitis enteropathica, zinc-deficiency type-SLC39A4
ClinGen Actionability Working Group
CLINGEN Actionability Report for Aceruloplasminemia-CP
ClinGen Actionability Working Group
CLINGEN Actionability Report for Wilson Disease - ATP7B
ClinGen Actionability Working Group
Wilson disease-treatment perspectives.
Litwin Tomasz et al. Annals of translational medicine 2019 Apr 7(Suppl 2) S68
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Identification of biomarkers and genetic approaches toward chronic obstructive pulmonary disease.
Wadhwa Ridhima et al. Journal of cellular physiology 2019 Mar
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Wilson's Disease: A Review for the General Pediatrician.
Capone Kristin et al. Pediatric annals 2018 Nov 47(11) e440-e444
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Wilson disease.
Czlonkowska Anna et al. Nature reviews. Disease primers 2018 Sep 4(1) 21
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Wilson's disease: A 2017 update.
Poujois Aurélia et al. Clinics and research in hepatology and gastroenterology 2018 Apr
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Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.
Socha Piotr et al. Journal of pediatric gastroenterology and nutrition 2018 Feb 66(2) 334-344
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Controversies and Variation in Diagnosing and Treating Children With Wilson Disease: Results of an International Survey.
Sturm Ekkehard et al. Journal of pediatric gastroenterology and nutrition 2016 Jul 63(1) 82-7
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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