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Dr. Nadia Mohamed Ali Saleh

Assistant Professor - Head of Nursing ِAdminstration Department , Faculty of Nursing - Trainer at the Center for Development of faculty members and leaders and Measurement and Evaluation Center at sohag university, Egypt

Faculty of Nursing

Address: Egypt, Sohag, Sohag University, Faculity of Nursing , Adminstration Department

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Publications Which contain the keyword: mitochondrial acetoacetyl‑CoA

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

2018-11-08 09:04:28 Keywords 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 ... Read more

A novel mutation (c.121 13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene

2018-09-16 14:20:15 Keywords exon skipping, aberrant splicing, polypyrimidine tract, splice acceptor site, T2 deficiency, mitochondrial acetoacetyl‑CoA,
A novel mutation (c.121 13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene
Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body utilization. In this study, mutational analysis of an Indian T2-deficient patient revealed a homozygous mutation (c.121‑13T>A) located at the polypyrimidine tract of the splice acceptor site of intron 2, and exon 3 skipping was identified by cDNA analysis using cycloheximide. We ... Read more

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