Search Results - "Dina A. Ghoraba"
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Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt
Published in The Egyptian journal of medical human genetics (01-04-2014)“…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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Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling
Published in The Egyptian journal of medical human genetics (01-01-2014)“…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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Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants
Published in Meta Gene (01-02-2015)“…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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Screening
Published in The Egyptian journal of medical human genetics (01-01-2014)“…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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