30 results on '"Duran, M. A."'
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2. Gas chromatography method for the separation of amino acids enantiomers in plasma and urine. Application in a case of short bowel syndrome
3. Rapid diagnosis of 3-hydroxy-3-methylglutaryl—coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method
4. O-Phosphohydroxylysinuria: a new inborn error of metabolism?
5. Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle
6. Quantitative acylcarnitine profiling in fibroblasts using [U-^2^3C] palmitic acid: an improved too! for the diagnosis of fatty acid oxidation defects
7. Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-Coa lyase deficiency: Facts and artefacts
8. Nϵ(β-aspartyl)lysinuria in children with various pathological conditions
9. Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine
10. Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids
11. D-Glyceric acidemia in a patient with chronic metabolic acedosis
12. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines
13. Chromatographic determination and mass spectrometric identification of γ-glutamylphenylalanine, a urinary constituent in phenylketonuria
14. Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia
15. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia
16. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism
17. Urinary excretion of 2-methyl-2,3-butanediol and 2,3-pentanediol in patients with disorders of propionate and methylmalonate metabolism
18. The variability of metabolite excretion in propionicacidaemia
19. Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions
20. The absolute configuration of urinary 5-hydroxyhexanoic acid — a product of fatty acid (ω-1)-oxidation — in patients with non-ketotic dicarboxylic aciduria
21. A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism
22. The absolute configuration of urinary 2-hydroxybutyric acid in patients with ketosis and lactic acidosis
23. (2-Ethoxyethoxy)acetic acid: An unusual compound found in the gas chromatographic analysis of urinary organic acids
24. 3-Methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-coa lyase deficiency
25. 2-Mercaptoethanesulfonate-cysteinedisulfide excretion following the administration of 2-mercaptoethanesulfonate—a pitfall in the diagnosis of sulfite oxidase deficiency
26. Gas chromatographic analysis of urinary volatile phenols in patients with gastro-intestinal disorders and normals
27. Gas chromatographic analysis of urinary tyrosine and phenylalanine metabolites in patients with gastrointestinal disorders
28. N ϵ(β-aspartyl)lysinuria in children with various pathological conditions
29. Propionic acid, an artefact which can leave methylmalonic acidemia undiscovered
30. d-lactic aciduria, an inborn error of metabolism?
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