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Gas chromatographic‐mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome
The metabolic profiles of three patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome were studied by simultaneous analysis, after urease treatment of urinaryExpand
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Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency.
Using gas chromatography-mass spectrometry (GC/MS), urinary organic acid profile studies were carried out on a patient with dihydrolipoyl dehydrogenase (E3) deficiency. Elevated levels ofExpand
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Altered metabolic profiles of valproic acid in a patient with Reye's syndrome.
Urinary valproate metabolite and endogenous organic acid profiles in a 6-yr-old girl with Reye's syndrome were investigated by means of gas chromatography-mass spectrometry. 2-n-Propyl-3-oxovalericExpand
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Mass spectrometric identification of 2-hydroxydodecanedioic acid and its homologues in urine from patients with hopantenate therapy during clinical episode.
Urine from patients with calcium-4-(2,4-dihydroxy-3,3-dimethylbutyramido) butyrate hemihydrate (hopantenate) therapy during episodes of Reye's-like syndrome was found to contain a number of unusualExpand
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Benzoylalanine: detection and identification of an alanine conjugate with benzoic acid in hyperammonemic patients treated with sodium benzoate.
Urine of four hyperammonemic patients who were treated with large amounts of sodium benzoate were analyzed. Gas chromatographic and gas chromatograph-mass spectrometric analysis showed the presenceExpand
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Improved specific assay for serum arylesterase using a water-soluble substrate.
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ELISA using monoclonal antibody to human serum arylesterase.
ELISA for determining arylesterase content in human serum has been developed by the one-step sandwich method using 2 monoclonal antibodies. While the content of arylesterase in healthy adults was 81Expand
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[Highly sensitive analytical procedure for methotrexate and its main metabolite 7-hydroxymethotrexate in serum by high-performance liquid chromatography].
Recently, methotrexate (MTX) low dose therapy (5-10 mg/m2) has been used for the treatment of patients with rheumatoid arthritis. Hence a practical and sensitive high-performance liquidExpand
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Abnormal fatty acid metabolism in patients in hopantenate therapy during clinical episodes.
Calcium 4-(2,4-dihydroxy-3,3-dimethylbutyramido)butyrate hemihydrate (hopantenate), a cerebral metabolic enhancer used in Japan since 1978, is a homologue of pantothenic acid. Using massExpand
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GC/MS Analysis of Urine in 3‐Hydroxy‐3‐Methylglutaryl‐CoA Lyase Deficiency
A patient with 3‐hydroxy‐3‐methylglutaric aciduria was diagnosed using gas chromatography mass spectrometry. The patient had severe metabolic acidosis, hypoglycemia and hyperammonemia and excretedExpand
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