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Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
(
Nature Publishing Group
, 2016 , Article)
Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
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 ...
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
(
Wiley
, 2018 , Article)
Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ...
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
(
Wiley
, 2018 , Article)
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, with various clinical manifestations that affect pulmonary, digestive, exocrine and male reproductive functions as well ...
Anaphylaxis triggers in a large tertiary care hospital in Qatar: a retrospective study
(
BMC
, 2018 , Article)
Anaphylaxis is a serious allergic disease that may lead to death if not immediately recognized and treated. Triggers of anaphylaxis including food, drugs, and insect stings can vary widely. The incidence of anaphylaxis ...
Potential routes of spread of Zika virus to the Middle East, North Africa and Asia: Action must be taken
(
Future Medicine Ltd.
, 2017 , Article Review)
[No abstract available]
Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
(
Elsevier
, 2018 , Article)
The GCC is an economic alliance of six Arab countries, including Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and United Arab Emirates (UAE). The rate of endogamous marriage among the GCC countries is approaching 100%, with ...
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, ...
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
(
Wiley
, 2018 , Article)
Galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase (GALK) enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hyper ...
Retinopathy of Type 1 Diabetes in Arab Countries: Systematic Review and Meta-Analysis.
(
Karger
, 2018 , Article Review)
To conduct a systematic review and meta-analysis of retinopathy prevalence in patients with type 1 diabetes (T1D) in 22 Arab countries. We systematically searched 4 different literature databases (PubMed, Science Direct, ...