Search filters

List of works by Elsayed Abdelkreem

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

scientific article published on 04 April 2017

A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia

scientific article published on 28 May 2019

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

scientific article published on 20 February 2017

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

scientific article published on 08 December 2016

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

scientific article published on January 2016

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

scientific article published on 10 October 2016

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

scientific article published on 10 July 2017

Inborn Errors of Immunity among Egyptian Children with Recurrent Acute Otitis Media

scientific article published in 2022

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

scientific article published on 23 April 2018

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

scientific article published on 03 July 2019

Nebulized Magnesium Sulfate for Treatment of Persistent Pulmonary Hypertension of Newborn: A Pilot Randomized Controlled Trial

scientific article published on 08 January 2021

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

scientific article published on 05 November 2018

Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.

scientific article published on 8 February 2017

Paulina is supported by:

About Paulina

Help