Literature DB >> 19416264

Conradi-Hünermann-Happle syndrome with abnormal lamellar granule contents.

M Akiyama, K Sakai, K Hayasaka, N Tabata, M Yamada, H Ujiie, A Shibaki, H Shimizu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19416264     DOI： 10.1111/j.1365-2133.2009.09110.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


× No keyword cloud information.
  3 in total

Review 1.  Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Authors:  Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2015-02-03

2.  Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.

Authors:  Amy S Paller; Maurice A M van Steensel; Marina Rodriguez-Martín; Jennifer Sorrell; Candrice Heath; Debra Crumrine; Michel van Geel; Antonio Noda Cabrera; Peter M Elias
Journal:  J Invest Dermatol       Date:  2011-07-14       Impact factor: 8.551

3.  Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome.

Authors:  Kenneth Yu; Alexander T Reid; Stephanie J T Chen; Rajiv M Patel; Steven M Donn; Johann E Gudjonsson; Lori Lowe
Journal:  JAAD Case Rep       Date:  2018-03-31
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.