Search Results - "Kebbewar, Moustafa"
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Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards
Published in The Journal of pediatrics (01-03-2010)“…Objective To allow early recognition of cystathionine β-synthase by newborn screening. Study design Total homocysteine was determined in dried blood spots with…”
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Molecular neonatal screening for homocystinuria in the Qatari population
Published in Human mutation (01-06-2009)“…We report the results of molecular neonatal screening for homocystinuria (cystathionine beta-synthase deficiency) in neonates of Qatari origin, developed in…”
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3
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity
Published in Amino acids (01-05-2010)“…Activity of carnosinase (CN1), the only dipeptidase with substrate specificity for carnosine or homocarnosine, varies greatly between individuals but increases…”
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CNDP1 genotype and renal survival in pediatric nephropathies
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-07-2016)“…The risk of developing type II diabetic nephropathy (DN) is lower in patients carrying the CNDP1 Mannheim polymorphism (homozygosity for the five leucine…”
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