Literature DB >> 10709665

Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.

G A Jansen1, S Ferdinandusse, E M Hogenhout, N M Verhoeven, C Jakobs, R J Wanders.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10709665

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


× No keyword cloud information.
  4 in total

1.  Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Authors:  G K Menon; E Orsó; Charalampos Aslanidis; D Crumrine; G Schmitz; Peter M Elias
Journal:  Arch Dermatol Res       Date:  2014-06-12       Impact factor: 3.017

Review 2.  Pathogenesis-based therapies in ichthyoses.

Authors:  Joey E Lai-Cheong; Peter M Elias; Amy S Paller
Journal:  Dermatol Ther       Date:  2013 Jan-Feb       Impact factor: 2.851

3.  Structural and functional restraints on the occurrence of single amino acid variations in human proteins.

Authors:  Sungsam Gong; Tom L Blundell
Journal:  PLoS One       Date:  2010-02-12       Impact factor: 3.240

Review 4.  Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Authors:  Peter M Elias; Mary L Williams; Walter M Holleran; Yan J Jiang; Matthias Schmuth
Journal:  J Lipid Res       Date:  2008-02-02       Impact factor: 5.922
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.