Elsayed Abdelkreem
Elsayed Abdelkreem
Lecturer of Pediatrics, Faculty of Medicine, Sohag University
Verified email at med.sohag.edu.eg - Homepage
Title
Cited by
Cited by
Year
Beta-ketothiolase deficiency: resolving challenges in diagnosis
E Abdelkreem, H Otsuka, H Sasai, Y Aoyama, T Hori, M Abd El Aal, ...
Journal of Inborn Errors of Metabolism and Screening 4, 2326409816636644, 2016
232016
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
T Fukao, H Sasai, Y Aoyama, H Otsuka, Y Ago, H Matsumoto, ...
Journal of Human Genetics 64 (2), 99-111, 2019
172019
Exon 10 skipping in ACAT1 caused by a novel c. 949G> A mutation located at an exonic splice enhancer site
H Otsuka, H Sasai, M Nakama, Y Aoyama, E Abdelkreem, H Ohnishi, ...
Molecular medicine reports 14 (5), 4906-4910, 2016
172016
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
KN Nguyen, E Abdelkreem, R Colombo, Y Hasegawa, NTB Can, TP Bui, ...
Journal of inherited metabolic disease 40 (3), 395-401, 2017
152017
Clinical and mutational characterizations of ten indian patients with beta-ketothiolase deficiency
E Abdelkreem, RRD Akella, U Dave, S Sane, H Otsuka, H Sasai, ...
JIMD Reports, Volume 35, 59-65, 2017
142017
Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons
M Nakama, H Otsuka, Y Ago, H Sasai, E Abdelkreem, Y Aoyama, T Fukao
Gene 664, 84-89, 2018
82018
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
E Abdelkreem, RK Harijan, S Yamaguchi, RK Wierenga, T Fukao
Human mutation 40 (10), 1641-1663, 2019
72019
A Turkish patient with succinyl-CoA: 3-oxoacid CoA transferase deficiency mimicking diabetic ketoacidosis
S Erdol, M Ture, T Yakut, H Saglam, H Sasai, E Abdelkreem, H Otsuka, ...
Journal of Inborn Errors of Metabolism and Screening 4, 2326409816651281, 2016
72016
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
H Sasai, Y Aoyama, H Otsuka, E Abdelkreem, M Nakama, T Hori, ...
Molecular Genetics & Genomic Medicine 5 (2), 177-184, 2017
62017
Heterozygous carriers of succinyl‐CoA: 3‐oxoacid CoA transferase deficiency can develop severe ketoacidosis
H Sasai, Y Aoyama, H Otsuka, E Abdelkreem, Y Naiki, M Kubota, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017
52017
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
Y Aoyama, H Sasai, E Abdelkreem, H Otsuka, M Nakama, S Kumar, ...
Molecular Medicine Reports 15 (6), 3879-3884, 2017
52017
Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature
E Abdelkreem, H Alobaidy, Y Aoyama, S Mahmoud, M Abd El Aal, ...
Egyptian Journal of Medical Human Genetics 18 (2), 199-203, 2017
52017
Effectiveness of medium-chain triglyceride oil therapy in two Japanese citrin-deficient siblings: evaluation using oral glucose tolerance tests
H Otsuka, H Sasai, E Abdelkreem, N Kawamoto, M Kawamoto, T Kamiya, ...
The Tohoku Journal of Experimental Medicine 240 (4), 323-328, 2016
52016
Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency
M Alijanpour, H Sasai, E Abdelkreem, Y Ago, S Soleimani, L Moslemi, ...
JIMD reports 46 (1), 23-27, 2019
42019
Clinical Features of Cerebral Cortex Malformations in Children: A Study in Upper Egypt
AA Sadek, AE Ahmed Sharaf, EM Abdelkreem, SR Abdul Wahed
OMICS J Radiology 2 (123), 2, 2013
22013
Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting
H Otsuka, T Kimura, Y Ago, M Nakama, Y Aoyama, E Abdelkreem, ...
Journal of Inherited Metabolic Disease, 2020
12020
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia
Y Ago, H Sugie, T Fukuda, H Otsuka, H Sasai, M Nakama, E Abdelkreem, ...
JIMD reports 48 (1), 15-18, 2019
12019
Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations
Y Ago, H Otsuka, H Sasai, E Abdelkreem, M Nakama, Y Aoyama, ...
Experimental and therapeutic medicine 20 (5), 1-1, 2020
2020
Characterization and outcome of 11 children with non-diabetic ketoacidosis
E Abdelkreem, RM Magdy, AA Sadek
Journal of Pediatric Endocrinology and Metabolism 1 (ahead-of-print), 2020
2020
Needs assessment for faculty development at an Egyptian medical school: a triangulation approach
E Abdelkreem, SA Abo-Kresha, EA Ahmed, D Ibrahim, SB Hemdan, ...
International Journal of Community Medicine and Public Health 7 (5), 1669, 2020
2020
The system can't perform the operation now. Try again later.
Articles 1–20