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Khalaf Ali Fayez Abuamra

استاذ - أستاذ متفرغ

كلية العلوم

العنوان: قسم النبات والميكروبيولوجى -كلية العلوم -جامعة سوهاج

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  • المنشورات و المؤلفات 12
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المنشورات و المؤلفات التي تحتوي علي الكلمة المفتاحية: Beta-ketothiolase deficiency

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency

2018-11-08 09:04:28 الكلمات المفتاحية Beta-ketothiolase deficiency, mitochondrial acetoacetyl‑CoA, T2 deficiency, ACAT1, Recent advances,
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. This disorder is clinically characterized by intermittent ketoacidotic crises under ketogenic stresses. In addition to a previous 26-case series, four series of T2-deficient patients were recently reported from different regions. In these series, most T2-deficient patients developed ... إقراء المزيد

Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis

2018-10-21 01:43:54 الكلمات المفتاحية Beta-ketothiolase deficiency, ,
Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis
Abstract Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical presentations have been reported and some other disorders, such as succinyl-CoA:3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, ... إقراء المزيد

Molecular characterization of beta-ketothiolase deficiency in 10 Indians: Discovery of 4 novel mutations in ACAT1 gene

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

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

2018-09-16 14:12:47 الكلمات المفتاحية T2 deficiency, Mutations, Ketoacidosis, Expression analysis, Beta-ketothiolase deficiency, ACAT1,
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by _ACAT1_ mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental ... إقراء المزيد

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site

2018-09-16 14:43:21 الكلمات المفتاحية aberrant splicing, exonic splice enhancer, minigene, Beta-ketothiolase deficiency, thiolase deficiency, acetyl-CoA acetyltransferase 1,
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site
Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is an autosomal recessive disease caused by mutations in the acetyl‑CoA acetyltransferase 1 (ACAT1) gene. A German T2‑deficient patient that developed a severe ketoacidotic episode at the age of 11 months, was revealed to be a compound heterozygote of a previously reported null mutation, c.472A>G (p.N158D) and a novel mutation, ... إقراء المزيد

Beta-ketothiolase deficiency: Resolving challenges in diagnosis

2018-09-16 14:52:38 الكلمات المفتاحية Beta-ketothiolase deficiency, diagnosis, challenges, Screening, Management,
Beta-ketothiolase deficiency: Resolving challenges in diagnosis
Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical presentations have been reported and some other disorders, such as succinyl-CoA:3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can ... إقراء المزيد

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