Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.

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Last Posted: Sep 10, 2018

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• Wilson disease.
  Czlonkowska Anna et al. Nature reviews. Disease primers 2018 Sep (1) 21
• Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.
  Li Huamei et al. Medicine 2018 Jul 97(27) e11405
• Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
  Bylstra Yasmin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
• Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
  Shim Jung Ok, et al. Journal of Korean medical science 2018 6 (26) e177
• Wilson Disease: Diagnosis, Treatment, and Follow-up.
  Schilsky Michael L et al. Clinics in liver disease 2017 Nov 21(4) 755-767
• Salivary biomarkers and proteomics: future diagnostic and clinical utilities.
  Castagnola M et al. Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale 2017 Apr 37(2) 94-101
• 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
• Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
  Tuan Pham Le Anh, et al. Journal of genetics 2017 12 (6) 933-939
• Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence.
  Kieffer Dorothy A et al. Liver research 2017 Sep 1(2) 121-130
• Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease.
  Roy Shubhrajit, et al. Annals of human genetics 2017 10

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