| Global multi-stakeholder endorsement of the MAFLD definition N Méndez-Sánchez, E Bugianesi, RG Gish, F Lammert, H Tilg, ... The lancet Gastroenterology & hepatology 7 (5), 388-390, 2022 | 161 | 2022 |
| 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 | 39 | 2019 |
| Impact of COVID-19 pandemic and related isolation measures on violence against children in Egypt SA AboKresha, E Abdelkreem, RAE Ali Journal of the Egyptian Public Health Association 96, 1-10, 2021 | 28 | 2021 |
| Beta-ketothiolase deficiency: resolving challenges in diagnosis E Abdelkreem, H Otsuka, H Sasai, Y Aoyama, T Hori, MAE Aal, ... Journal of Inborn Errors of Metabolism and Screening 4, 2016 | 28 | 2016 |
| 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 | 25 | 2019 |
| 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 43 (5), 960-968, 2020 | 22 | 2020 |
| 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 | 21 | 2017 |
| 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 | 20 | 2017 |
| 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 | 18 | 2016 |
| 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 | 17 | 2017 |
| Nebulized magnesium sulfate for treatment of persistent pulmonary hypertension of newborn: a pilot randomized controlled trial E Abdelkreem, SM Mahmoud, MO Aboelez, M Abd El Aal Indian Journal of Pediatrics 88, 771-777, 2021 | 16 | 2021 |
| 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 | 16 | 2018 |
| 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, 2016 | 16 | 2016 |
| Need's 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 5, 1669-79, 2020 | 11 | 2020 |
| 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 | 10 | 2016 |
| 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 | 8 | 2017 |
| 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 | 6 | 2020 |
| 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 | 6 | 2019 |
| 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 | 6 | 2019 |
| 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 | 6 | 2017 |
Hiroki OtsukaDepartment of Pediatrics, Graduate School of Medicine, Gifu UniversityVerified email at gifu-u.ac.jp
