نتایج جستجو برای: inborn errors of metabolism
تعداد نتایج: 21191850 فیلتر نتایج به سال:
Inborn metabolic errors are a diverse range of illnesses that can be inherited or result from natural mutation. Non-fulfillment processes involved in the breakdown storage carbohydrates, fatty acids, proteins causes several illnesses. metabolism (IEM) hereditary caused by mutations genes code for metabolism-related proteins. In one out every 2000 newborns, mistake is present. Carbohydrate metab...
introduction biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. we report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. with a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. rapid treatment was life-savin...
This article aims at summarizing some teaching practices and approaches that, according to the literature, have a large impact on student learning. We will focus mainly on some aspects that are under direct control of the instructor: the clear definition of the intended learning outcomes, which include a model of what the student is expected to do or know after successful completion of the cour...
Childhood blindness and visual impairment are as important and perhaps more devastating and disabling than adult onset blindness, because of the long span of life still remaining to be lived. Refractive errors and more particularly myopia, place a substantial burden on the individual and society. School-age children constitute a particularly vulnerable group where uncorrected refractive errors ...
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