Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene

Kazuhiro Ohya, Wataru Abo, Hisamitsu Tamaki, Chieko Sugawara, Tetsuya Endo, Shosuke Nomachi, Masaru Fukushi, Miyuki Kinebuchi, Akihiro Matsuura

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

We report a family study of a presymptomatic form of Wilson disease. Our report demonstrates that mutation analysis is very useful for diagnosing presymptomatic Wilson disease in patients without consanguineous parents and for assessing the carrier status of the patients' family members. Previously undetected mild cases of Wilson disease could be diagnosed using this methodology.

Original languageEnglish
Pages (from-to)124-126
Number of pages3
JournalEuropean Journal of Pediatrics
Volume161
Issue number2
DOIs
Publication statusPublished - 01-01-2002

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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