نتایج جستجو برای: biotinidase
تعداد نتایج: 922 فیلتر نتایج به سال:
Methods In a prospective study involving 12 Swedish HIV clinics, all newly diagnosed patients, >18 years, are invited to participate to explore what characterize a late presenters (LP), defined by CD4 <350 and/or AIDS diagnosis, from those diagnosed earlier. Demographic and biomedical data are collected as well as HIV-related symptoms and AIDS diagnosis. Four questionnaires are completed; medic...
Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical manifestations in biotin deficiency are seborrheic dermatitis, dry skin, fine and...
A triagem neonatal biológica, popularmente conhecida como “teste do pezinho”, é um teste preventivo capaz de identificar seis doenças em neonatos, sendo elas a Fenilcetonúria, o Hipotireoidismo Congênito, Doença Falciforme e outras hemoglobinopatias, Fibrose Cística, Hiperplasia Adrenal Congênita Deficiência Biotinidase. Este estudo objetivou avaliar conhecimento dos profissionais da Estratégia...
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