Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
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منابع مشابه
diagnostic and developmental potentials of dynamic assessment for writing skill
این پایان نامه بدنبال بررسی کاربرد ارزیابی مستمر در یک محیط یادگیری زبان دوم از طریق طرح چهار سوال تحقیق زیر بود: (1) درک توانایی های فراگیران زمانیکه که از طریق برآورد عملکرد مستقل آنها امکان پذیر نباشد اما در طول جلسات ارزیابی مستمر مشخص شوند; (2) امکان تقویت توانایی های فراگیران از طریق ارزیابی مستمر; (3) سودمندی ارزیابی مستمر در هدایت آموزش فردی به سمتی که به منطقه ی تقریبی رشد افراد حساس ا...
15 صفحه اولZellweger spectrum disorders: clinical overview and management approach
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor fe...
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Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndrome to patients with a relatively mild phenotype. Treatment options are limited to symptomatic and supportive therapy. During routine follow-up we discovered patients with asymptomatic prim...
متن کاملEvaluation of Serum Interleukins-6, 8 and 10 Levels as Diagnostic Markers of Neonatal Infection and Possibility of Mortality
Objective(s): Bacterial infection contributes substantially to neonatal morbidity and mortality. Early diagnosis of neonatal sepsis is difficult because clinical signs are non-specific. We have evaluated serum IL-6, 8 and 10 as potential early diagnostic markers of neonatal infection and their relationship to mortality rate and poor prognosis. Materials and Methods : A total ...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2017
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-017-0064-0