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Dietary management of inborn errors of amino acid metabolism
Postgraduate Medicine, 1979Individually, inborn errors of amino acid metabolism are rare. Collectively, however, they constitute a significant group of diseases whose number is constantly increasing. Their recognition is important, especially in childhood, because many of these diseases respond well to diet therapy.
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Inborn Errors of Amino Acid and Organic Acid Metabolism
1992Human genes are assumed to number more than 50,000, and 4937 Mendelian inheritances are presently known (1). There are more than 500 inherited diseases in which primary defects are located in enzyme protein or nonenzyme protein. About 180 diseases are known in which a disorder of intermediary metabolism occurs as a result of a single enzyme defect.
Isamu Matsumoto, Tomiko Kuhara
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[Inborn errors of amino acid metabolism].
Nihon rinsho. Japanese journal of clinical medicine, 1992Several conditions and disorders were caused by enzyme defects in metabolism of imino acids. Hyperprolinemia type I and type II, hyperhydroxyprolinemia, imidopeptiduria (prolidase deficiency) were related to proline and/or hydroxyproline metabolism. Sarcosinemia and abnormality in pipecolic acid metabolism were also classified as inborn errors of imino
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The Nutritional Significance of Inborn Errors of Amino Acid Metabolism
Annals of Nutrition and Metabolism, 1977Inborn errors of metabolism affect the metabolism of 7 out of 8 essential amino acids and a number of non-essential ones. Dietary treatment has been applied with varying success. The wide variations in the severity of symptoms in this group of diseases are discussed.
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Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism
2010The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood and urine. For years, the most widespread technique in use was ion-exchange chromatography followed by post-column derivatization with ninhydrin, a method which is the basis of numerous ...
Monique, Piraud +6 more
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Metabolic Disorders: Inborn Errors of Amino Acid, Ammonia, Organic Acid, and Fatty Acid Metabolism
DeckerMed Medicine, 2015The small molecule diseases include inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central among the biochemical genetic disorders that may present with life-threatening illnesses during infancy and childhood. Many of these disorders are now detected through routine newborn screening.
Gerard T Berry, Sameer S Chopra
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Inborn Errors of Amino Acid and Organic Acid Metabolism
1998Each of the 30 to 40 inborn errors of amino acid and or organic acid metabolism represent a rare occurrence in perinatal medicine. However, their combined incidence is about 1/4000 in the neonatal period. Their importance derives from what they tell us about intermediary metabolism and from the fact that these are generally treatable diseases if ...
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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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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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