Literature DB >> 26872206

Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.

Kosuke Mochida1, Masahiro Amano1, Noriko Miyake2, Naomichi Matsumoto2, Atsushi Hatamochi3, Tomoki Kosho4.   

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Year:  2016        PMID： 26872206     DOI： 10.1111/1346-8138.13273

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  6 in total

1.  Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.

Authors:  Noriko Miyake; Tomoki Kosho; Naomichi Matsumoto
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 2.  Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Authors:  Shuji Mizumoto; Tomoki Kosho; Shuhei Yamada; Kazuyuki Sugahara
Journal:  Pharmaceuticals (Basel)       Date:  2017-03-27

3.  Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Authors:  Charlotte K Lautrup; Keng W Teik; Ai Unzaki; Shuji Mizumoto; Delfien Syx; Heng H Sin; Irene K Nielsen; Sara Markholt; Shuhei Yamada; Fransiska Malfait; Naomichi Matsumoto; Noriko Miyake; Tomoki Kosho
Journal:  Mol Genet Genomic Med       Date:  2020-03-04       Impact factor: 2.183

Review 4.  Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Authors:  Tomoki Kosho; Shuji Mizumoto; Takafumi Watanabe; Takahiro Yoshizawa; Noriko Miyake; Shuhei Yamada
Journal:  Genes (Basel)       Date:  2019-12-29       Impact factor: 4.096

5.  Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Authors:  Mari Minatogawa; Ai Unzaki; Hiroko Morisaki; Delfien Syx; Tohru Sonoda; Andreas R Janecke; Anne Slavotinek; Nicol C Voermans; Yves Lacassie; Roberto Mendoza-Londono; Klaas J Wierenga; Parul Jayakar; William A Gahl; Cynthia J Tifft; Luis E Figuera; Yvonne Hilhorst-Hofstee; Alessandra Maugeri; Ken Ishikawa; Tomoko Kobayashi; Yoko Aoki; Toshihiro Ohura; Hiroshi Kawame; Michihiro Kono; Kosuke Mochida; Chiho Tokorodani; Kiyoshi Kikkawa; Takayuki Morisaki; Tetsuyuki Kobayashi; Takaya Nakane; Akiharu Kubo; Judith D Ranells; Ohsuke Migita; Glenda Sobey; Anupriya Kaur; Masumi Ishikawa; Tomomi Yamaguchi; Naomichi Matsumoto; Fransiska Malfait; Noriko Miyake; Tomoki Kosho
Journal:  J Med Genet       Date:  2021-11-23       Impact factor: 5.941

Review 6.  Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

Authors:  Sanne D'hondt; Tim Van Damme; Fransiska Malfait
Journal:  Genet Med       Date:  2017-10-05       Impact factor: 8.822
  6 in total

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