PATHOGENESIS-BASED THERAPY REVERSES CUTANEOUS ABNORMALITIES IN AN INHERITED DISORDER OF DISTAL CHOLESTEROL METABOLISM

Identification of the underlying genetic, cellular, and biochemical basis of lipid metabolic disorders provides an opportunity to deploy corrective, mechanism-targeted, topical therapy. We assessed this therapeutic approach in two patients with Congenital Hemidysplasia with Ichthyosiform Erythroderm...

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Main Authors: Paller, Amy S., van Steensel, Maurice A. M., Rodriguez-Martín, Marina, Sorrell, Jennifer, Heath, Candrice, Crumrine, Debra, van Geel, Michel, Cabrera, Antonio Noda, Elias, Peter M.
格式: Artigo
語言:Inglês
出版: 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3193573/
https://ncbi.nlm.nih.gov/pubmed/21753784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2011.189
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