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10 Neonatal screening for inborn errors of amino acid metabolism
Clinics in Endocrinology and Metabolism, 1974Summary Neonatal screening for the inborn errors of amino acid metabolism andtransport, begun as only phenylketonuria (PKU) screening, is gradually becoming more widespread and encompassing many different disorders. The basic screening methods used are the. ‘Guthrie’ tests and, in some instances, paper chromatography.
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Screening for inborn errors of amino acid metabolism.
Annals of clinical and laboratory science, 1991Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. The abnormal blood and urinary amino acids and their metabolites are listed in two separate tables in association with each disorder to aid laboratories in making a diagnosis during screening.
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[Inborn errors of amino acid metabolism--concepts and classification].
Nihon rinsho. Japanese journal of clinical medicine, 1992After the definition and the heredity of inborn errors of amino acid metabolism and a discussion of the incidence of these diseases, the four primary types of clinical features, namely 1) the prenatal, 2) neonatal (with acute onset), 3) mild, and 4) abortive types are described. The pathophysiology of brain damage is discussed. Based on recent findings,
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