Skin Changes Revealing a Disorder of Lipid Metabolism
نویسندگان
چکیده
منابع مشابه
Refsum's disease: a disorder of lipid metabolism.
The condition first described by Refsum (1945) as 'heredo-ataxia hemeralopia polyneuritiformis' and subsequently referred to as 'heredopathia atactica polyneuritiformis' (Refsum, 1946) is a rare disorder probably inherited as an autosomal mendelian recessive. The cardinal features of this condition are an atypical retinitis pigmentosa, cerebellar ataxia, and a peripheral neuropathy resembling t...
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ژورنال
عنوان ژورنال: Deutsches Aerzteblatt Online
سال: 2018
ISSN: 1866-0452
DOI: 10.3238/arztebl.2018.0231