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Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism

2019
Inborn errors of metabolism (IEMs) are a large class of genetic disorders that result from defects in enzymes involved in energy production and metabolism of nutrients. For every metabolic pathway, there are defects that can occur and potentially result in an IEM.
William S. Phipps   +2 more
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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   +5 more
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Chromatographic screening of 70,328 neonates for inborn errors of amino acid metabolism.

Acta paediatrica Hungarica, 1985
Between the years 1974 and 1984, amino acid chromatography was performed from dried blood spots and partly from urine of 70 328 neonates. Six cases of phenylketonuria, one histidinaemia, one hyperglycinaemia and three cystinurias were found. Since all these could have been detected by other methods, the regional screening was discontinued in agreement ...
Méhes, K.   +2 more
openaire   +1 more source

Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets

Journal of Child Neurology, 1992
This paper presents experiences encountered with protein-modified diets (PMD) in the management of 67 patients, aged 1 day to 14 years, followed in the Pediatric Nutrition Clinic in the past 5 years. All had inborn errors of amino acid metabolism : maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency ...
openaire   +3 more sources

THE PATHOGENESIS OF MENTAL RETARDATION IN PHENYLKETONURIA AND OTHER INBORN ERRORS OF AMINO ACID METABOLISM

Pediatrics, 1967
It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most common of the amino acid disorders.
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Carnitine metabolism in patients with inborn errors of amino acid metabolism

Clinical Nutrition, 1985
D Pennschmidtsommerfeld   +4 more
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