Výsledky vyhledávání - "Heba S A El Abd"

Two patients with Canavan disease and structural modeling of a novel mutation

Autor: Rana S Al disi, Reem A Mattar, Khalid A Ahmed, Mariam Y. Nofal, Osama K. Zaki, Rajaa El Bekay, Hatem Zayed, C. George Priya Doss, Navaneethakrishnan Krishnamoorthy, Soumaya A Harche, Heba S A El Abd

Publikováno v: Metabolic Brain Disease. 32:171-177

Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis of N-acetyl-L-aspartate (NAA)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec5a882095f49ba5036999d439e5ae6
https://doi.org/10.1007/s11011-016-9896-9

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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

Autor: Heba S A El Abd, Rajaa El Bekay, Magdy M. Hassan, Hatem Zayed, Allal Ouhtit, Ahmed Moseilhy, Shaimaa Abdelsattar Mohammad, Ussama M. Abdel-Motal, Osama K. Zaki

Publikováno v: Metabolic Brain Disease. 32:35-40

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 phenotype. MRI was performed on the patient using the 1.5 T magnet, biochemical analysis was c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a6bdb796d42650c8301ea236d58471
https://doi.org/10.1007/s11011-016-9879-x

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Novel mutation in an Egyptian patient with infantile Canavan disease

Autor: Hatem Zayed, Osama K. Zaki, Heba S A El Abd, Shaimaa Mohamed

Publikováno v: Metabolic Brain Disease. 31:573-577

Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. It is a severe progre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23269226453ef64aa545ed2298b122cd
https://doi.org/10.1007/s11011-015-9772-z

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Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

Autor: Ahmed Mosaeilhy, Heba S A El Abd, George Priya Doss C, Hatem Zayed, Osama K. Zaki, Radwa Gamal, Magdy M. Mohamed

Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, dystonia and frontotemporal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c1db53bcba76adb390db873d3c26466
https://hdl.handle.net/10576/5679

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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

Autor: Radwa Gamal, George Priya Doss C, Shaima A Elashi, Osama K. Zaki, Heba S A El Abd, Bilal N Nasr, Thirumal Kumar D, Maryam S A Ebnou, Hatem Zayed, Salsabil A Ali, Ghadeer G Murad, Ola Khalifa

Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c379b458a2337707f832266f5b439f
https://hdl.handle.net/10576/5683

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