Results 141 to 150 of about 8,658 (196)
Some of the next articles are maybe not open access.
Diagnosis of Inborn Errors of Amino Acid Metabolism
Archives of Pediatrics & Adolescent Medicine, 1967IN THE PAST, new syndromes were reported when an astute clinical observer noted a pattern of symptoms which had not previously been recognized. Recently, the trend has been toward the description of biochemical aberrations long before the clinical manifestations of the diseases are established.
openaire +3 more sources
Inborn Errors of Amino Acid and Organic Acid Metabolism
1991Each 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 ...
Gerard T. Berry, Mark L. Batshaw
openaire +2 more sources
Inborn Errors of Amino Acid Metabolism: The Best Strategy for Their Diagnosis
International Journal of Technology Assessment in Health Care, 1992AbstractWe performed a cost-effectiveness analysis to evaluate whether a pediatrician who suspects an inherited disease of amino acid metabolism should refer the child to a specialist in inborn errors of amino acid metabolism or should prescribe the usual screening test, chromatography of amino acids.
Claudine Blum-Boisgard +3 more
openaire +3 more sources
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.
openaire +3 more sources
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 ...
Cécile Acquaviva +6 more
openaire +3 more sources
Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism
2009Analysis of clinically relevant amino acids using ion-exchange chromatography coupled to photometric detection has been an indispensable component in the detection of inborn errors of metabolism for six decades. Detection of amino acids using mass spectrometry offers advantages in speed and analytic specificity.
Annette L. Weindel +2 more
openaire +4 more sources
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
openaire +2 more sources
Alanine Decreases the Protein Requirements of Infants with Inborn Errors of Amino Acid Metabolism
Journal of Neurogenetics, 1985Supplementation with alanine was found to increase growth in weight and nitrogen balance in 5 infants with a variety of inborn errors of amino acid metabolism receiving diets restricted in protein. The addition of alanine to the regimen led to a mean increase in weight of 15 g/day.
Jon A. Wolff +4 more
openaire +3 more sources
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.
openaire +2 more sources
Pathogenesis of Brain Dysfunction in Inborn Errors of Amino Acid Metabolism
1975It is now only four decades since Folling’s original description of the condition he termed Imbecillitas phenylpyrouvica,(1) or phenylpyruvic oligophrenia, which was the first clear association of an inherited disorder of amino acid metabolism with brain dysfunction.
Harris H. Tallan +3 more
openaire +2 more sources