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

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

4 被引用数 (Scopus)

抄録

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.

本文言語	英語
ページ（範囲）	124-126
ページ数	3
ジャーナル	European Journal of Pediatrics
巻	161
号	2
DOI	https://doi.org/10.1007/s00431-001-0865-9
出版ステータス	出版済み - 2002

All Science Journal Classification (ASJC) codes

小児科学、周産期医学および子どもの健康

文献へのアクセス

10.1007/s00431-001-0865-9

他のファイルとリンク

引用スタイル

@article{f4b288f51a024b408a25ccf977fc3aa5,

title = "Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene",

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",

year = "2002",

doi = "10.1007/s00431-001-0865-9",

language = "English",

volume = "161",

pages = "124--126",

journal = "European Journal of Pediatrics",

issn = "0340-6199",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "2",

}

TY - JOUR

T1 - Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene

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.

UR - https://www.scopus.com/pages/publications/0036169996

UR - https://www.scopus.com/pages/publications/0036169996#tab=citedBy

U2 - 10.1007/s00431-001-0865-9

DO - 10.1007/s00431-001-0865-9

M3 - Article

C2 - 11954751

AN - SCOPUS:0036169996

SN - 0340-6199

VL - 161

SP - 124

EP - 126

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 2

ER -

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

抄録

All Science Journal Classification (ASJC) codes

文献へのアクセス

他のファイルとリンク

フィンガープリント

引用スタイル