Literature DB >> 11954751

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.   

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Year:  2002        PMID： 11954751     DOI： 10.1007/s00431-001-0865-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

Authors:  E K Kim; O J Yoo; K Y Song; H W Yoo; S Y Choi; S W Cho; S H Hahn
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

2.  Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

Authors:  A Yamaguchi; A Matsuura; S Arashima; Y Kikuchi; K Kikuchi
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

3.  Severe hepatic Wilson's disease in preschool-aged children.

Authors:  D C Wilson; M J Phillips; D W Cox; E A Roberts
Journal:  J Pediatr       Date:  2000-11       Impact factor: 4.406

4.  Histology of the liver in Wilson's disease: a study of 34 cases.

Authors:  F W Stromeyer; K G Ishak
Journal:  Am J Clin Pathol       Date:  1980-01       Impact factor: 2.493
  4 in total
  1 in total

1.  Contribution of Va24Vb11 natural killer T cells in Wilsonian hepatitis.

Authors:  M Kinebuchi; A Matsuura; K Ohya; W Abo; J Kitazawa
Journal:  Clin Exp Immunol       Date:  2005-01       Impact factor: 4.330
  1 in total

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