Publications by authors named "Azza Orabi"
Objective: To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt.
Methods: The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically.
Objective: In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period of 5 years and to compare the disease burden in Egypt in the absence of a national screening program for inherited metabolic disorders with other populations.
Methods: During this period 3380 Egyptian children were suspected of having IEMs based on clinical/laboratory presentation and were analyzed by MS/MS. Confirmatory testing was performed according to flagged analyte by MS/MS using a different sample type such as plasma or urine or by a different technique such as GC/MS.
Objective: Amplitude integrated electroencephalography (aEEG) has been used in neonates in various clinical and research applications. We hypothesized that an abnormal aEEG score could be used as a predictor of short-term adverse outcome.
Methods: Very low birth weight infants were enrolled in a prospective observational cohort study.