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

doi:10.1007/s00431-001-0865-9

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 journal › Article › peer-review

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 language	English
Pages (from-to)	124-126
Number of pages	3
Journal	European Journal of Pediatrics
Volume	161
Issue number	2
DOIs	https://doi.org/10.1007/s00431-001-0865-9
Publication status	Published - 2002

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1007/s00431-001-0865-9

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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.",

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

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AU - Ohya, Kazuhiro

AU - Abo, Wataru

AU - Tamaki, Hisamitsu

AU - Sugawara, Chieko

AU - Endo, Tetsuya

AU - Nomachi, Shosuke

AU - Fukushi, Masaru

AU - Kinebuchi, Miyuki

AU - Matsuura, Akihiro

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

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ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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