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Serine acetyltransferase (SATase; EC, which catalyzes the formation of O-acetyl-L-serine (OAS) from acetyl-CoA and L-serine, plays a regulatory role in the biosynthesis of cysteine by its property of feedback inhibition by cysteine in bacteria and certain plants. Three cDNA clones encoding SATase isoforms (SAT-c, SAT-p, and SAT-m) have been(More)
Recessive LPIN1 mutations were identified as a cause of severe rhabdomyolysis in pediatric patients. The human lipin family includes two other closely related members, lipin-2 and 3, which share strong homology and similar activity. The study aimed to determine the involvement of the LPIN family genes in a cohort of pediatric and adult patients (n = 171)(More)
OBJECTIVE Estimation of free polyunsaturated fatty acids (PUFAs) in blood and evaluation of behavior of autistic children before and after taking fish oil (Efalex) were performed. DESIGN AND METHODS 30 autistic children (18 males and 12 females) aged 3-11 years and 30 healthy children as control group were included in this study. Tandem mass spectrometry(More)
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social, communication, and behavioral development. Recent evidence supported but also questioned the hypothetical role of compounds containing mercury (Hg) as contributors to the development of ASD. Specific alterations in the urinary excretion of porphyrin-containing ring(More)
The potential benefits of treating late diagnosed 60 patients with phenylketonuria (PKU) were investigated. Patients subjected to clinical, biochemical, IQ and electroencephalography (EEG) assessment and followed up in correlation with nutritional status. Further, a subset received magnetic resonance imaging (MRI). Screening for six common mutations(More)
Background: Peroxisomes are organelles responsible mainly for metabolism of lipids and peroxides. Lack of peroxisomes or dysfunction in any of their normal functions is the cellular basis for human peroxisomal disorders (PDs). Aim of the Work: diagnosis of peroxisomal disorders among a high risk group of Egyptian patients using gas chromatography mass(More)
BACKGROUND AND STUDY AIMS Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability. PATIENTS AND METHODS We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology(More)
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