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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
- MedicineJournal of chromatography. B, Biomedical sciences…
- 5 July 2001
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
- T. Kuhara
- BiologyJournal of chromatography. B, Analytical…
- 5 December 2002
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
- T. Yorifuji, M. Kawai, T. Nakahata
- BiologyHuman Genetics
- 4 July 2002
TLDR
Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
TLDR
Four-Hydroxyphenylpyruvic Acid Oxidase Deficiency with Normal Fumarylacetoacetase: a New Variant Form of Hereditary Hypertyrosinemia
- F. Endo, A. Kitano, I. Matsumoto
- MedicinePediatric Research
- 1 February 1983
TLDR
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
- T. Saheki, Kanako Inoue, Keiko Kobayashi
- BiologyMolecular genetics and metabolism
- 1 December 2011
Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples
- T. Kuhara, M. Ohse, J. Ishimatu
- MedicineJournal of Inherited Metabolic Disease
- 1 May 2002
TLDR
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
- Y. Nakajima, J. Meijer, A. V. van Kuilenburg
- Biology, MedicineJournal of Inherited Metabolic Disease
- 14 February 2014
TLDR
Metabolism of branched medium chain length fatty acid. II--beta-oxidation of sodium dipropylacetate in rats.
- I. Matsumoto, T. Kuhara, M. Yoshino
- Chemistry, BiologyBiomedical mass spectrometry
- 1 August 1974
TLDR
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
- I. Matsumoto, T. Kuhara
- MedicineMass spectrometry reviews
- 1996
TLDR
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