Results 241 to 250 of about 21,421 (302)
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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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Expert opinion on therapeutic targets, 2017
M. Pakula, T. Maier, T. Vorup-Jensen
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M. Pakula, T. Maier, T. Vorup-Jensen
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[Prenatal diagnosis of inborn error of amino acid metabolism].
Nihon rinsho. Japanese journal of clinical medicine, 1992Prenatal diagnosis of inborn errors of amino acid metabolism was discussed from the viewpoints of its purpose, ethical problems, analysis methods, and sampling methods of the fetal tissues. In addition to the general discussion, our results of the prenatal diagnosis of 20 cases with nonketotic hyperglycinemia (NKH) were also reported.
S, Kure, K, Tada
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Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism.
Advances in Clinical Chemistry, 2019William S. Phipps +2 more
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Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
, 2018J. Merritt, R. Gallagher
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Clinical trials examining treatments for inborn errors of amino acid metabolism
, 2017A. Goldstein, J. Vockley
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