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HPLC analysis of amino acids in inborn errors of metabolism.
The Southeast Asian journal of tropical medicine and public health, 1996Analysis of amino acids in blood or urine is a valuable diagnostic tool in cases of suspected metabolic disorders. The presence of a characteristic pattern of elevated amino acids is very useful in the diagnosis of these rare disorders. The detection of an apparently normal pattern of amino acids is also helpful to the clinician since it will eliminate
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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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Diet Therapy for Inborn Errors of Amino Acid Metabolism
Journal of the American Dietetic Association, 1967openaire +2 more sources
Special Diets for Infants With Inborn Errors of Amino Acid Metabolism
Pediatrics, 1976Lewis A Barness +2 more
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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, Khushbu Patel
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