Results 161 to 170 of about 10,064 (198)
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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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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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Special Diets for Infants With Inborn Errors of Amino Acid Metabolism
Pediatrics, 1976Kline O L +2 more
exaly
Diet Therapy for Inborn Errors of Amino Acid Metabolism
Journal of the American Dietetic Association, 1967openaire +2 more sources