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Editorial
. 2021 Jan;56(1):114-115.
doi: 10.1007/s00535-020-01752-1. Epub 2021 Jan 3.

Diagnosis for Wilson disease: this disease may not be a rare disease

Masaru Harada  1
Affiliations
Editorial

Diagnosis for Wilson disease: this disease may not be a rare disease

Masaru Harada. J Gastroenterol. 2021 Jan.
No abstract available

Keywords: ATP7B; Ceruloplasmin; Genetic disease; Wilson disease.

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Comment on

  • Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
    García-Villarreal L, Hernández-Ortega A, Sánchez-Monteagudo A, Peña-Quintana L, Ramírez-Lorenzo T, Riaño M, Moreno-Pérez R, Monescillo A, González-Santana D, Quiñones I, Sánchez-Villegas A, Olmo-Quintana V, Garay-Sánchez P, Espinós C, González JM, Tugores A. García-Villarreal L, et al. J Gastroenterol. 2021 Jan;56(1):78-89. doi: 10.1007/s00535-020-01745-0. Epub 2020 Nov 7. J Gastroenterol. 2021. PMID: 33159804

References

    1. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089–111. - DOI
    1. European Association for the Study of the Liver. EASL clinical practice guidelines: Wilson’s disease. J Hepatol. 2012;56:671–85. - DOI
    1. Harada M. Pathogenesis and management of Wilson disease. Hepatol Res. 2014;44:395–402. - DOI
    1. Miyajima H, Nishimura Y, Mizoguchi K, et al. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology. 1987;37:761–7. - DOI
    1. Walshe JM. Diagnostic significance of reduced serum ceruloplasmin concentration in neurological disease. Mov Disord. 2005;20:1658–61. - DOI

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