All Stories

  1. Characterization and outcome of 11 children with non-diabetic ketoacidosis

    Article • Journal of Pediatric Endocrinology and Metabolism, October 2020, De Gruyter

    Dr Elsayed Abdelkreem

  2. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons

    Article • Gene, July 2018, Elsevier

    Dr Elsayed Abdelkreem

  3. AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

    Article • Annals of Translational Medicine, September 2017, AME Publishing Company

    Dr Elsayed Abdelkreem

  4. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

    Article • Journal of Inherited Metabolic Disease, July 2017, Springer Science + Business Media

    Dr Elsayed Abdelkreem

  5. 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

    Article • Molecular Medicine Reports, April 2017, Spandidos Publications

    Dr Elsayed Abdelkreem

  6. Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

    Article • Journal of Inherited Metabolic Disease, February 2017, Springer Science + Business Media

    Dr Elsayed Abdelkreem

  7. Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in theACAT1gene

    Article • Molecular Genetics & Genomic Medicine, February 2017, Wiley

    Dr Elsayed Abdelkreem

  8. Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature

    Article • Egyptian Journal of Medical Human Genetics, January 2017, Elsevier

    Dr Elsayed Abdelkreem

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

    Article • December 2016, Springer Science + Business Media

    Dr Elsayed Abdelkreem

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

    Article • Molecular Medicine Reports, October 2016, Spandidos Publications

    Dr Elsayed Abdelkreem

  11. A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

    Article • Journal of Inborn Errors of Metabolism and Screening, June 2016, SAGE Publications

    Dr Elsayed Abdelkreem, Sahin Erdol

  12. Beta-Ketothiolase Deficiency

    Article • Journal of Inborn Errors of Metabolism and Screening, March 2016, SAGE Publications

    Dr Elsayed Abdelkreem

  13. Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests

    Article • The Tohoku Journal of Experimental Medicine, January 2016, Tohoku University Medical Press

    Dr Elsayed Abdelkreem

  14. Clinical Features of Cerebral Cortex Malformations in Children: A Study in Upper Egypt

    Article • OMICS Journal of Radiology, January 2013, OMICS Publishing Group

    Dr Elsayed Abdelkreem