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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193573/
https://www.ncbi.nlm.nih.gov/pubmed/21753784
http://dx.doi.org/10.1038/jid.2011.189