d.elsayedmohammed

Elsayed Abdelkreem

Lecturer - Lecturer of Pediatrics

Faculty of medicine

Address: AlShikh-Shibl Village, AlMaragha City, Sohag

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Publications Which contain the keyword: Mutation


2018-09-29 15:40:59 Keywords 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 ... Read more

2018-09-25 09:13:37 Keywords 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 ... Read more

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 ... Read more