Results 251 to 260 of about 167,642 (275)

Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism

2010
The 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, Monique Piraud, Séverine Ruet, Christine Vianey-Saban, David Cheillan, Sylvie Boyer, Pascale Clerc-Renaud   +6 more
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Phenylketonuria: and Some Other Inborn Errors of Amino Acid Metabolism, Biochemistry, Genetics, Diagnosis and Therapy, edited by Bickel, H., Hudson, F. P., and Woolf, L. I. New York: Intercontinental Medical Book Corporation, 1971, 336 pp., no price given

Pediatrics, 1973
This volume reports the proceedings of a Heidelberg conference on the subject of phenylketonuria and other inborn errors of amino acid metabolism. Although the conference was held in June 1969, and the book published in February 1971, this belated review
C. Scriver
semanticscholar   +1 more source

Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism

2009
Analysis 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, Dennis J. Dietzen, Dennis J. Dietzen   +2 more
openaire   +4 more sources

Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism

2012
Stephen Cederbaum, Gerard T. Berry
openaire   +3 more sources

Inborn Errors of Amino Acid and Organic Acid Metabolism

1992
Human 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

Blood and urine amino acid aberrations. Physiologic and pathological changes in patients without inborn errors of amino acid metabolism.

A M A Journal of Diseases of Children, 1969
NORMAL values for plasma and urinary amino acids have been presented in a number of studies.1-7The range of reported values is great and varies from one study to another.
R. Feigin
semanticscholar   +1 more source

10 Neonatal screening for inborn errors of amino acid metabolism

Clinics in Endocrinology and Metabolism, 1974
Summary 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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[Inborn errors of amino acid metabolism].

Nihon rinsho. Japanese journal of clinical medicine, 1992
Several 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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Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism

Seminars in Perinatology, 1999
Disorders of amino acid and organic acid metabolism collectively represent a group of over 70 inherited diseases that are most frequently encountered in the neonatal period. A neonate with clinical symptoms caused by one of these disorders is a real clinical emergency, a situation complicated by the similarities to the manifestations seen in sepsis or ...
BURLINA A, Bonafe L, Zacchello F
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Urine Amino Acid Analysis by HPLC in the Investigation of Inborn Errors of Metabolism

1986
Reversed-phase high performance liquid chromatography (HPLC) of o-phthalal-dehyde (OPA) derivatives provides a technique that is readily applicable to the estimation of free amino acids (Turnell and Cooper, 1982; Griffin etal., 1982; Price et al., 1984; Palmer, 1985).
V. G. Oberholzer, A. Briddon, Trevor Palmer, Martin Griffin, J. M. Leah, C. J. Wingad   +5 more
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