2-Amino-1-(2-carboxylatoethyl)pyrimidin-1-ium monohydrate

In the title structure, C7H9N3O2·H2O, there are two formula units in the asymmetric unit.The molecule is a zwitterion, containing a quaternary N atom and Washing Machine Timer Motor a deprotonated carboxyl group, with C—O distances in the range 1.256 (2)–1.266 (3) Å.The two indepen

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Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

Abstract Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation.This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death.MCAD deficiency usually presents around three to six months of life, following ca

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