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Genetic Epidemiology of Type 1 Diabetes in the 22 Arab Countries.
(
Current Medicine Group
, 2016 , Article)
Type 1 diabetes (T1D) is a complex autoimmune disorder that results from the T cell-mediated destruction of the pancreatic β cells and is due to interactions between environmental and genetic factors. Although Arabs have ...
Structural modeling of p.V31F variant in the aspartoacylase gene.
(
Springer Verlag
, 2016 , Article)
Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain ...
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme
(
Springer US
, 2017 , Article)
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development ...
Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
(
Elsevier
, 2019 , Article)
Ovarian cancer (OC) is a common disease among Arabs, with one of the highest incidences in the world. OC is underdiagnosed, underreported, and mostly reported with breast cancer. This study aimed to conduct a systematic ...
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
(
Springer US
, 2017 , Article)
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, ...
Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.
(
Elsevier
, 2018 , Article)
Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis ...