نتایج جستجو برای: biotinidase
تعداد نتایج: 922 فیلتر نتایج به سال:
Babies are not little adults. This frequently repeated statement implies that to develop accurate diagnostic methods to identify potentially catastrophic disorders, it is not sufficient to just wait until permanent changes have occurred and are clearly recognized by physicians in clinical practice. This is the position of many organizations that advocate on behalf of children [1]. Moreover, in ...
Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its are nervous system and skin manifestations. A 15-month-old patient who was diagnosed Li-Campeau syndrome, also BTD his clinic rapidly improved biotin treatment. With the awareness of different clinical presentations deficiency, patients presenting raising suspicion t...
We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the t...
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