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

3 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

Fingerprint

Hepatolenticular Degeneration
Mutation
Genes
Asymptomatic Diseases
Parents

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Ohya, Kazuhiro ; Abo, Wataru ; Tamaki, Hisamitsu ; Sugawara, Chieko ; Endo, Tetsuya ; Nomachi, Shosuke ; Fukushi, Masaru ; Kinebuchi, Miyuki ; Matsuura, Akihiro. / Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. In: European Journal of Pediatrics. 2002 ; Vol. 161, No. 2. pp. 124-126.
@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",
month = "1",
day = "1",
doi = "10.1007/s00431-001-0865-9",
language = "English",
volume = "161",
pages = "124--126",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Verlag",
number = "2",

}

Ohya, K, Abo, W, Tamaki, H, Sugawara, C, Endo, T, Nomachi, S, Fukushi, M, Kinebuchi, M & Matsuura, A 2002, 'Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene', European Journal of Pediatrics, vol. 161, no. 2, pp. 124-126. https://doi.org/10.1007/s00431-001-0865-9

Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. / Ohya, Kazuhiro; Abo, Wataru; Tamaki, Hisamitsu; Sugawara, Chieko; Endo, Tetsuya; Nomachi, Shosuke; Fukushi, Masaru; Kinebuchi, Miyuki; Matsuura, Akihiro.

In: European Journal of Pediatrics, Vol. 161, No. 2, 01.01.2002, p. 124-126.

Research output: Contribution to journalArticle

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 - 2002/1/1

Y1 - 2002/1/1

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 - http://www.scopus.com/inward/record.url?scp=0036169996&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036169996&partnerID=8YFLogxK

U2 - 10.1007/s00431-001-0865-9

DO - 10.1007/s00431-001-0865-9

M3 - Article

C2 - 11954751

AN - SCOPUS:0036169996

VL - 161

SP - 124

EP - 126

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 2

ER -