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Browsing by Subject "biotinidase deficiency, hereditary disease, neurometabolic disease, nervous system"

Browsing by Subject "biotinidase deficiency, hereditary disease, neurometabolic disease, nervous system"

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  • Clinical Case of Biotinidase Deficiency 
    Rahimbayeva, Gulnora (Journal of education and scientific medicine, 2023-10)
    Biotinidase deficiency is an autosomal recessively inherited metabolic disease. If left untreated, patients with biotinidase deficiency typically develop neurological and skin symptoms that can lead to coma and death. ...