نتایج جستجو برای: acrodermatitis enthropathica

تعداد نتایج: 473  

Journal: :QJM: An International Journal of Medicine 2020

Journal: :Human molecular genetics 2007
Jodi Dufner-Beattie Benjamin P Weaver Jim Geiser Mehmet Bilgen Melissa Larson Wenhao Xu Glen K Andrews

The human Zip4 gene (Slc39a4) is mutated in the rare recessive genetic disorder of zinc metabolism acrodermatitis enteropathica, but the physiological functions of Zip4 are not well understood. Herein we demonstrate that homozygous Zip4-knockout mouse embryos die during early morphogenesis and heterozygous offspring are significantly underrepresented. At mid-gestation, an array of developmental...

2018
Youichi Ogawa Manao Kinoshita Shinji Shimada Tatsuyoshi Kawamura

The skin is the third most zinc (Zn)-abundant tissue in the body. The skin consists of the epidermis, dermis, and subcutaneous tissue, and each fraction is composed of various types of cells. Firstly, we review the physiological functions of Zn and Zn transporters in these cells. Several human disorders accompanied with skin manifestations are caused by mutations or dysregulation in Zn transpor...

We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels isoleucine, was confirmed. Supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. We assume that in our patient the sk...

Journal: :Indian Journal of Dermatology, Venereology, and Leprology 2012

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