khalaf.ali

Khalaf Ali Fayez Abuamra

استاذ - أستاذ متفرغ

كلية العلوم

العنوان: قسم النبات والميكروبيولوجى -كلية العلوم -جامعة سوهاج

3

إعجاب

المنشورات و المؤلفات التي تحتوي علي الكلمة المفتاحية: Mutation


2018-09-29 15:40:59 الكلمات المفتاحية ACAT1, Beta-ketothiolase deficiency, India, Mutation,
Molecular characterization of beta-ketothiolase deficiency in 10 Indians: Discovery of 4 novel mutations in ACAT1 gene
Beta-ketothiolase (T2) deficiency is an autosomal recessive metabolic disease caused by mutations in _ACAT1 _gene. This disease affects isoleucine catabolism and ketone body utilization and characterized clinically by intermittent ketoacidotic episodes. We report 9 Indians with beta-ketothiolase deficiency. They were suspected based on their clinical presentations (ketoacidotic episodes) and increased urinary isoleucine catabolic metabolites. Genomic DNA analysis revealed 6 different ... إقراء المزيد

2018-09-25 09:13:37 الكلمات المفتاحية Breast Cance, Mutation, BRCA 1, breast cancer barca 1,
The Value of BRCA 1 Gene Mutation in Patients with Breast Cancer
INTRODUCTION: Breast cancer (BC) is the most common malignant tumor in females in almost all of countries with highest age-adjusted incidence in developed countries (73%) and includes the 23% of all types of cancers. World Health Organization (WHO) report shows that this prevalence rising 2% per year. As a matter of fact, BC is responsible for most of deaths due ... إقراء المزيد

2018-09-16 13:55:43 الكلمات المفتاحية T2 deficiency, ACAT1, Mutation, Transient expression analysis, Ketone bodies, metabolic encephalopathy,
Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine. In this study, we report on the first two siblings with T2 deficiency from Libya. Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive. T2 deficiency in patient 1, the younger sister, manifested as recurrent severe episodes ... إقراء المزيد

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