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Recurrent N209* ABHD5 Mutation In Two Unreported Families With Chanarin Dorfman Syndrome
(2021)
ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman ...
A multicentre prospective analysis of the incidence of pemphigoid diseases in Turkey
(2021)
Background: The differentiation between the pemphigoid diseases is essential for treatment and prognosis. In Turkey, data on the incidence of these diseases are insufficient. Our aim in this study is to determine the ...