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Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
  • T. Kuhara
  • Chemistry, Medicine
  • Journal of chromatography. B, Biomedical sciences…
  • 5 July 2001
This review will be concerned primarily with a practical yet comprehensive diagnostic procedure for the diagnosis or even mass screening of a variety of metabolic disorders. This rapid, highlyExpand
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Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
  • T. Kuhara
  • Medicine, Chemistry
  • Journal of chromatography. B, Analytical…
  • 5 December 2002
To diagnose inborn errors of metabolism, it would be desirable to simultaneously analyze and quantify organic acids, purines, pyrimidines, amino acids, sugars, polyols, and other compounds using aExpand
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Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
Abstract. Propionic acidemia [MIM 606054] is a form of organic acidemia caused by genetic deficiency of propionyl-CoA carboxylase (PCC) and characterized by attacks of severe metabolic acidemia andExpand
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Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia
Summary: Enzymatic studies on the liver of an infant are described-a case of hypertyrosinemia without hepatic dysfunction. His parents were siblings and the mother had hypertyrosinemia. ExcessiveExpand
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Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples
Propionic acidaemia (PCCD) or deficiency of propionyl-CoA carboxylase (PCC) is one of the most common organic acidaemias. Recent studies have suggested that this disease can cause somatic orExpand
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Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
The citrin/mitochondrial glycerol-3-phosphate dehydrogenase (mGPD) double-knockout mouse displays phenotypic attributes of both neonatal intrahepatic cholestasis and adult-onset type IIExpand
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Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
The clinical presentation of inborn errors of pyrimidine degradation varies considerably from asymptomatic to severe neurological illness. We have reported a method to screen for and make a chemicalExpand
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Metabolism of branched medium chain length fatty acid. II--beta-oxidation of sodium dipropylacetate in rats.
Catabolic intermediates of sodium dipropylacetate, an anticonvulsant drug, in the urine extracts of the drug-treated rats were examined by the aid of gas chromatography mass spectrometry. ElevenExpand
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A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
In most developed countries, neonatal mass screening programs for the early diagnosis of inborn errors of metabolism (IEM) have been implemented and have been found to be effective for the preventionExpand
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Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Lesch-Nyhan syndrome (LNS) is caused by a severe deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and clinically characterized by self-injurious behavior and nephrolithiasis; theExpand
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