Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The d...

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Hlavní autoři: Aufenvenne, Karin, Larcher, Fernando, Hausser, Ingrid, Duarte, Blanca, Oji, Vinzenz, Nikolenko, Heike, Del Rio, Marcela, Dathe, Margitta, Traupe, Heiko
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791258/
https://ncbi.nlm.nih.gov/pubmed/24055110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.003
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