Search Results - "Abdelkreem, Elsayed"

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency by Abdelkreem, Elsayed, Harijan, Rajesh K., Yamaguchi, Seiji, Wierenga, Rikkert K., Fukao, Toshiyuki

“…Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an inherited disorder of ketone body and isoleucine metabolism. It…”
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Impact of COVID-19 pandemic and related isolation measures on violence against children in Egypt by AboKresha, Seham Ahmed, Elsayed, Abdelkreem, Ali Rasha Abd Elhameed

“…BackgroundCoronavirus disease 2019 (COVID-19) and related isolation measures have substantial adverse economic, social, and psychological consequences and…”
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Frequency of CD40‐1C>T polymorphism (rs1883832) and association with response to treatment in children with primary immune thrombocytopenia by Ahmed, Heba A., Abdelkreem, Elsayed, Hamed, Elham O., Abo Elmahassen, Nagwa M., Younis, Mustafa Adel A.

“…Objectives: To investigate whether (cluster of differentiation) CD40‐1C>T (rs1883832) contributes to predisposition and treatment response of primary immune…”
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Frequency of toll‐like receptor 4 variants and association with treatment response in children with primary immune thrombocytopenia by Ahmed, Heba A., Fahmy, Eman M., Abdelkreem, Elsayed, Mahmoud, Ekram A., Nafady, Asmaa, Ahmed, Eman H.

“…Abstract Objectives : To investigate the frequency of toll‐like receptor 4 ( TLR4 ) variants c.896A>G (p.Asp299Gly) and c.1196C>T (p.Thr399Ile) among Egyptian…”
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Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting by Otsuka, Hiroki, Kimura, Takeshi, Ago, Yasuhiko, Nakama, Mina, Aoyama, Yuka, Abdelkreem, Elsayed, Matsumoto, Hideki, Ohnishi, Hidenori, Sasai, Hideo, Osawa, Masatake, Yamaguchi, Seiji, Mitchell, Grant A., Fukao, Toshiyuki

“…d‐3‐Hydroxy‐n‐butyrate dehydrogenase (BDH1; EC 1.1.1.30), encoded by BDH1, catalyzes the reversible reduction of acetoacetate (AcAc) to 3‐hydroxybutyrate…”
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Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency by Fukao, Toshiyuki, Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Ago, Yasuhiko, Matsumoto, Hideki, Abdelkreem, Elsayed

“…Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine…”
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The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report by Sadek, Abdelrahim A, Aladawy, Mohammed A, Mansour, Tarek M. M, Sayed, Khulood M, Khang, Rin, Abdelkreem, Elsayed

“…Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system with increased neoplastic…”
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Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis by Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Naiki, Yasuhiro, Kubota, Mitsuru, Sekine, Yuji, Itoh, Masatsune, Nakama, Mina, Ohnishi, Hidenori, Fujiki, Ryoji, Ohara, Osamu, Fukao, Toshiyuki

“…Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1 ) deficiency is an autosomal recessive disorder in ketone body utilization that results in…”
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Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests by Otsuka, Hiroki, Sasai, Hideo, Abdelkreem, Elsayed, Kawamoto, Norio, Kawamoto, Minako, Kamiya, Toshiya, Tanimoto, Yasuo, Kikuchi, Atsuo, Kure, Shigeo, Numakura, Chikahiko, Hayasaka, Kiyoshi, Fukao, Toshiyuki

“…Citrin deficiency, an inherited defect of the liver-type mitochondrial aspartate/glutamate carrier isoform (citrin), may cause impairment of glycolysis because…”
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Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency by Alijanpour, Morteza, Sasai, Hideo, Abdelkreem, Elsayed, Ago, Yasuhiko, Soleimani, Shima, Moslemi, Leila, Yamaguchi, Seiji, Rezapour, Masomeh, Hakimi, Mohammad T, Matsumoto, Hideki, Fukao, Toshiyuki

“…Beta‐ketothiolase (T2, mitochondrial acetoacetyl‐CoA thiolase) deficiency is an autosomal recessive disorder of isoleucine catabolism and ketone body…”
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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 by Aoyama, Yuka, Sasai, Hideo, Abdelkreem, Elsayed, Otsuka, Hiroki, Nakama, Mina, Kumar, Sandeep, Aroor, Shrikiran, Shukla, Anju, Fukao, Toshiyuki

“…Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body…”
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A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia by Ago, Yasuhiko, Sugie, Hideo, Fukuda, Tokiko, Otsuka, Hiroki, Sasai, Hideo, Nakama, Mina, Abdelkreem, Elsayed, Fukao, Toshiyuki

“…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…”
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Single‐nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT 1 gene by Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Nakama, Mina, Hori, Tomohiro, Ohnishi, Hidenori, Turner, Lesley, Fukao, Toshiyuki

“…Abstract Background β‐ketothiolase (T2, gene symbol ACAT 1 ) deficiency is an autosomal recessive disorder, affecting isoleucine and ketone body metabolism. We…”
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Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature by Abdelkreem, Elsayed, Alobaidy, Hanna, Aoyama, Yuka, Mahmoud, Shaimaa, Abd El Aal, Mohamed, Fukao, Toshiyuki

“…Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones…”
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A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis by Erdol, Sahin, Ture, Mehmet, Yakut, Tahsin, Saglam, Halil, Sasai, Hideo, Abdelkreem, Elsayed, Otsuka, Hiroki, Fukao, Toshiyuki

“…Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with…”
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Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site by Otsuka, Hiroki, Sasai, Hideo, Nakama, Mina, Aoyama, Yuka, Abdelkreem, Elsayed, Ohnishi, Hidenori, Konstantopoulou, Vassiliki, Sass, Jörn Oliver, Fukao, Toshiyuki

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Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons by Nakama, Mina, Otsuka, Hiroki, Ago, Yasuhiko, Sasai, Hideo, Abdelkreem, Elsayed, Aoyama, Yuka, Fukao, Toshiyuki

“…Alu elements occupy 10% of the human genome. However, although they contribute to genomic and transcriptomic diversity, their function is still not fully…”
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Levetiracetam and Midazolam vs Midazolam Alone for First-Line Treatment of Children With Generalized Convulsive Status Epilepticus (Lev-Mid Study): A Randomized Controlled Trial by Elshater, Ahmed A., Sadek, Abdelrahim A., Abdelkreem, Elsayed

“…Background Benzodiazepines are the first-line anti-seizure medication (ASM) for generalized convulsive status epilepticus (GCSE), but they fail to end seizures…”
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Perceptions of the Research Integrity Climate in Egyptian Universities: A Survey Among Academic Researchers by Abdelkreem, Elsayed, Ibrahim, Maha Emad, Elateek, Sawsan, Abdelgawad, Fatma, Silverman, Henry J

“…Investigations regarding perceptions of the institutional research integrity climate in the Arab Middle East remain underexplored. We surveyed faculty from…”
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Nebulized Magnesium Sulfate for Treatment of Persistent Pulmonary Hypertension of Newborn: A Pilot Randomized Controlled Trial by Abdelkreem, Elsayed, Mahmoud, Shaimaa M., Aboelez, Moustafa O., Abd El Aal, Mohamed

“…Objectives To investigate the effectiveness of nebulized magnesium sulfate in treating persistent pulmonary hypertension of newborn (PPHN). Methods…”
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