Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Elsayed Abdelkreem"'
Autor:
Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek M. M. Mansour, Khulood M. Sayed, Rin Khang, Elsayed Abdelkreem
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system with increased neoplastic predisposition. This disease has been rarely associated with multiple congenital a
Externí odkaz:
https://doaj.org/article/cdc4a47f5e204d5f9f061b5eaa8c6688
Publikováno v:
Journal of the Egyptian Public Health Association, Vol 96, Iss 1, Pp 1-10 (2021)
Abstract Background Coronavirus disease 2019 (COVID-19) and related isolation measures have substantial adverse economic, social, and psychological consequences and expose children to increased risk of violence. The present study aimed to investigate
Externí odkaz:
https://doaj.org/article/4d98eb6a520140ec93d691ebb78ec6bd
Autor:
Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
Abstract We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To dete
Externí odkaz:
https://doaj.org/article/12f8ec4428a547d897c7fdbd0e46676c
Autor:
Elsayed Abdelkreem, Hanna Alobaidy, Yuka Aoyama, Shaimaa Mahmoud, Mohamed Abd El Aal, Toshiyuki Fukao
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 2, Pp 199-203 (2017)
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine. In this study, we report on the first two siblings with T2 deficiency from Li
Externí odkaz:
https://doaj.org/article/4dce69d884134504a90fe0fa28b0e54a
Autor:
Sahin Erdol MD, Mehmet Ture MD, Tahsin Yakut PhD, Halil Saglam PhD, Hideo Sasai MD, Elsayed Abdelkreem MD, Hiroki Otsuka MD, Toshiyuki Fukao MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency
Externí odkaz:
https://doaj.org/article/1f6beff17898491787ca450ad33d0315
Autor:
Elsayed Abdelkreem MD, MSc, Hiroki Otsuka MD, Hideo Sasai MD, Yuka Aoyama PhD, Tomohiro Hori MD, PhD, Mohamed Abd El Aal MD, PhD, Shaimaa Mahmoud MD, PhD, Toshiyuki Fukao MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, sever
Externí odkaz:
https://doaj.org/article/c0064487a6c6417c9e30477d4be23c8e
Autor:
Elsayed Abdelkreem, Hager A. Mohamed, Abdelrahim A. Sadek, Abdelhady R. Abdel-Gawad, Amr A. Othman
Publikováno v:
The Egyptian Journal of Hospital Medicine. 90:1494-1500
Autor:
Eman M. Fahmy, Elsayed Abdelkreem, Osama E. Mohamed, Mostafa M. Abosdera, Abdelrahim A. Sadek
Publikováno v:
The Egyptian Journal of Hospital Medicine. 88:3069-3077
Autor:
Mohammed Abd Elsameea, Mohammed Abd-Elkader, Eman M. Fahmy, Elsayed Abdelkreem, Mostafa A. ElTaher
Publikováno v:
Journal of Pediatric Infectious Diseases. 17:148-154
Objective Our objective was to investigate the relative frequency and pattern of inborn errors of immunity (IEIs) among Egyptian children with recurrent acute otitis media (rAOM). Methods This was a cross-sectional study that included children from t
Autor:
Mostafa El-Taher, Mohammed Abd Elsameea, Mohammed Abd-Elkader, Eman Fahmy, Elsayed Abdelkreem
Publikováno v:
Abstract- und Posterband - 93. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn Interface - Fokus Mensch im Zeitalter der technisierten Medizin.