Literature DB >> 2103400

Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis.

F Nakamura1, H Sasaki, H Kajihara, M Yamanoue.   

Abstract

A 33 year old woman with mental deficiency, retinitis pigmentosa, obesity, and parental consanguinity (heredity) was diagnosed as having Laurence-Moon-Biedl syndrome. She also had diabetes mellitus, slight hepatic dysfunction, and hepatomegaly. Liver biopsy showed perilobular fibrosis and bile duct proliferation with cystic dilatation; these findings are consistent with those of congenital hepatic fibrosis.

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Year:  1990        PMID: 2103400     DOI: 10.1111/j.1440-1746.1990.tb01826.x

Source DB:  PubMed          Journal:  J Gastroenterol Hepatol        ISSN: 0815-9319            Impact factor:   4.029


  6 in total

Review 1.  Liver and kidney disease in ciliopathies.

Authors:  Meral Gunay-Aygun
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

2.  Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Authors:  Kentaro Kurata; Katsuhiro Hosono; Akiko Hikoya; Akihiko Kato; Hirotomo Saitsu; Shinsei Minoshima; Tsutomu Ogata; Yoshihiro Hotta
Journal:  Jpn J Ophthalmol       Date:  2018-04-17       Impact factor: 2.447

3.  Abnormal cystatin C levels in two patients with bardet-biedl syndrome.

Authors:  Makito Hirano; Mitsuru Ohishi; Toshihide Yamashita; Yasushi Ikuno; Hiromi Iwahashi; Toshiyuki Mano; Ryu Ishihara; Ichiro Tanaka; Keiko Yanagihara; Chiharu Isono; Hikaru Sakamoto; Yusaku Nakamura; Susumu Kusunoki
Journal:  Clin Med Insights Case Rep       Date:  2011-03-10

4.  Clinical characteristics of individual organ system disease in non-motile ciliopathies.

Authors:  Angela Grochowsky; Meral Gunay-Aygun
Journal:  Transl Sci Rare Dis       Date:  2019-07-04

5.  Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.

Authors:  Kentaro Horiuchi; Tomomi Kogiso; Takaomi Sagawa; Taito Ito; Makiko Taniai; Kenichiro Miura; Motoshi Hattori; Naoya Morisada; Etsuko Hashimoto; Katsutoshi Tokushige
Journal:  Intern Med       Date:  2020-11-01       Impact factor: 1.271

6.  The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

Authors:  Makito Hirano; Wataru Satake; Kenji Ihara; Ikuya Tsuge; Shuji Kondo; Ken Saida; Hiroyuki Betsui; Kazuhiro Okubo; Hikaru Sakamoto; Shuichi Ueno; Yasushi Ikuno; Ryu Ishihara; Hiromi Iwahashi; Mitsuru Ohishi; Toshiyuki Mano; Toshihide Yamashita; Yutaka Suzuki; Yusaku Nakamura; Susumu Kusunoki; Tatsushi Toda
Journal:  PLoS One       Date:  2015-09-01       Impact factor: 3.240

  6 in total

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