P002 Phenotypic assessment of patients homozygous and heterozygous for E92K mutation
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چکیده
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 اولHomozygous and heterozygous expression of a novel IGF-I mutation
1 Departments of Pediatrics, 2 Department of Endocrinology and Metabolism, 3Center for Human and Clinical Genetics, 8Department of Cardiology, 9 Department of Audiology Leiden University Medical Center, Leiden, The Netherlands 4 Department of Metabolic and Endocrine diseases, University Medical Center Utrecht, Utrecht, The Netherlands 5 Medical Research Laboratories and Medical Department, Aarh...
متن کاملCongenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation
OBJECTIVE The ATP-sensitive K(+) channel (K(ATP)) controls insulin secretion from the islet. Gain- or loss-of-function mutations in channel subunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively. In this study, we sought to identify the mechanistic basis of K(ATP)-induced HI in two probands and to characterize the clinical course. RESEARCH DESIGN AND METHO...
متن کاملPhenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
As you know, there are many more unanswered questions than there are medicine-based facts in the field of mitochondrial medicine, particularly regarding the pathogenesis of disease and phenotypic expression in our two patients [1]. The most surprising aspect of their illness is the fact that neither manifested mitochondrial DNA depletion in skeletal muscle, yet both had significant myopathy. It...
متن کاملPhenotypic heterogeneity of a compound heterozygous SUCLA2 mutation☆☆☆☆☆☆
CNS involvement Encephalopathy Yes Yes [Lamperti 2012] Dystonia Yes Yes [Carrozza 2016] Spasticity Yes Yes [Carrozza 2016] Choreoathetosis Yes No [Ostergaard 2007] Migraine Yes No No Developmental delay Yes Yes [Carrozza 2016] Irritability Yes No [Lamperti 2012] Hypotonia Yes Yes [Carrozza 2016] Perturbed sleep/wake cycle No Yes No Dysarthria/anarthria Yes Yes [Lamperti 2012] Basal ganglia invo...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2019
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(19)30297-8