Search Results - "Zaki, Osama K"

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia by Ibrahim, Ali Zaki, Thirumal Kumar, D., Abunada, Taghreed, Younes, Salma, George Priya Doss, C., Zaki, Osama K., Zayed, Hatem

“…Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the PCCA or PCCB genes, leading to mitochondrial accumulation of propionyl-CoA…”
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Inherited metabolic disorders in a cohort of Egyptian children by Abdelsattar, Shimaa, Obada, Manar, El-Hawy, Mahmoud A, Abd El Naby, Sameh A, Zaki, Osama K, Elsaid, Hala

“…Background Inborn errors of metabolism (IEMs) represent a special challenge in pediatric practice. Despite the unquestionable clinical significance of newborn…”
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The Use of Glycomacropeptide in Dietary Management of Phenylketonuria by Elghawaby, Ahmed, Abdulazim, Nayera, Moustafa, Aisha, Ez Elarab, Hanan S., Ebeid, Yasmin, El-Wakeel, Lamia, Zaki, Osama K., Karara, Hala

“…Dietary therapy is the most common therapy applied in treatment of Phenylketonuria (PKU) with restriction of intake of most natural proteins that are rich in…”
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Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease by Kotby, Alyaa A., Al-Fahham, Marwa M., Elabd, Heba Salah A., Zaki, Osama K.

“…Some amino acids, including branched-chain amino acids, also have been shown to possess a potent signaling function to regulate global growth and metabolism…”
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Glutaric aciduria type 1: neuroimaging features with clinical correlation by Mohammad, Shaimaa Abdelsattar, Abdelkhalek, Heba Salah, Ahmed, Khaled A., Zaki, Osama K.

“…Background Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. Objective To describe the MR imaging abnormalities in glutaric…”
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Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders by Abd-Elkhalek, Heba S., Gamal, Radwa, Zaki, Osama K., Elsayed, Solaf M.

“…Neurometabolic disorders are a group of inborn errors of metabolism where neurological symptoms predominate especially convulsions which are usually resistant…”
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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants by Zaki, Osama K, Priya Doss C, George, Ali, Salsabil A, Murad, Ghadeer G, Elashi, Shaima A, Ebnou, Maryam S A, Kumar D, Thirumal, Khalifa, Ola, Gamal, Radwa, El Abd, Heba S A, Nasr, Bilal N, Zayed, Hatem

“…Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA…”
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Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt by Zaki, Osama K., Elabd, Heba Salah, Ragheb, Shaimaa Gad, Ghoraba, Dina A., Elghawaby, Ahmed Essam

“…Glutaric acidemia type 1 (GA1) was thought to be a rare disorder in Arab countries. Recently, a relatively large number of patients with GA1 have been detected…”
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Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I by Mosaeilhy, Ahmed, Mohamed, Magdy M., C, George Priya Doss, El Abd, Heba S. A., Gamal, Radwa, Zaki, Osama K., Zayed, Hatem

“…Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are…”
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Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1 by Zayed, Hatem, El Khayat, Hamed, Tomoum, Hoda, Khalifa, Ola, Siddiq, Ehab, Mohammad, Shaimaa A., Gamal, Radwa, Shi, Zumin, Mosailhy, Ahmed, Zaki, Osama K.

“…Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH)…”
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Two patients with Canavan disease and structural modeling of a novel mutation by Zaki, Osama K, Krishnamoorthy, Navaneethakrishnan, El Abd, Heba S, Harche, Soumaya A, Mattar, Reem A, Al disi, Rana S, Nofal, Mariam Y., El Bekay, Rajaa, Ahmed, Khalid A, George Priya Doss, C, Zayed, Hatem

“…Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic…”
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l-Carnitine supplementation improves the behavioral symptoms in autistic children by Fahmy, Sarah Farid, El-hamamsy, Manal H., Zaki, Osama K., Badary, Osama A.

“…► Significant differences were found in free and total carnitine levels after therapy. ► Clinically, l-carnitine supplementation improves autism severity. ►…”
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Novel mutation in an Egyptian patient with infantile Canavan disease by Zaki, Osama K., El Abd, Heba S., Mohamed, Shaimaa A., Zayed, Hatem

“…Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic…”
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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene by Moseilhy, Ahmed, Hassan, Magdy M., El Abd, Heba S. A., Mohammad, Shaimaa A., El Bekay, Rajaa, Abdel-Motal, Ussama M., Ouhtit, Allal, Zaki, Osama K., Zayed, Hatem

“…To characterize an Egyptian patient with glutaric acidemia type I (GA I) and to identify the causative mutation(s) that may be responsible for the disease…”
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Structural chromosomal abnormalities in couples with recurrent abortion in Egypt by Gaboon, Nagwa E A, Mohamed, Ahmed Ramy, Elsayed, Solaf M, Zaki, Osama K, Elsayed, Mohamed A

“…To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive of…”
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Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling by Ghoraba, Dina A., Mohamed, Magdy M., Zaki, Osama K.

“…Organic acid disorders are a heterogeneous group of inborn errors of metabolism, in which organic acids accumulate in the body. They have high prevalence in…”
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CYP1B1 Gene Mutation Impact on Prognosis of Primary Congenital Glaucoma by Mohammad, Noha S, Rashad, Saad M, el Maamoun, Tarek A, Zaki, Osama K, Mohamed, Thanaa H, Fawzy, Samah M

“…Abstract Background Primary congenital glaucoma (PCG) is a leading cause of childhood blindness in Egypt. The discovery of the underlying genetic causes has…”
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Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants by Ghoraba, Dina A., Mohammed, Magdy M., Zaki, Osama K.

“…Methylmalonic aciduria (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It is an inborn error of organic…”
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A survey of 1,000 cases referred for cytogenetic study to King Khalid University Hospital, Saudi Arabia by Al Husain, M, Zaki, O K

“…We reviewed cytogenetic studies that have been done in 1,000 consecutive non-oncology samples that were referred to the Cytogenetics Unit at King Khalid…”
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Screening by Dina A. Ghoraba, Magdy M. Mohamed, Osama K. Zaki

“…Background: Organic acid disorders are a heterogeneous group of inborn errors of metabolism, in which organic acids accumulate in the body. They have high…”
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