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Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics

Analytical biochemistry, 2020-09, Vol.604, p.113739-113739, Article 113739

2020

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A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Brain & development (Tokyo. 1979), 2019-03, Vol.41 (3), p.280-284

2019

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Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics

IJU case reports, 2023-11, Vol.6 (6), p.436-439

2023

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A GC/MS-based metabolomic approach for diagnosing citrin deficiency

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.1881-1894

2011

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A biomarker found in cadmium exposed residents of Thailand by metabolome analysis

International journal of environmental research and public health, 2014-04, Vol.11 (4), p.3661-3677

2014

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A Japanese case of β-ureidopropionase deficiency with dysmorphic features

Brain & development (Tokyo. 1979), 2017-01, Vol.39 (1), p.58-61

2017

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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

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.492-500

2011

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Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS

Journal of chromatography. B, 2008-07, Vol.870 (2), p.160-163

2008

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Application of optical isomer analysis by diastereomer derivatization GC/MS to determine the condition of patients with short bowel syndrome

Journal of chromatography. B, 2006-06, Vol.838 (1), p.37-42

2006

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Simple and quantitative analysis of urinary sulfated tauro- and glycodihydroxycholic acids in infant with cholestasis by electrospray ionization mass spectrometry

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007-08, Vol.855 (1), p.104-108

2007

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Changes in urinary level and configuration ratio of d-lactic acid in patients with short bowel syndrome

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007-08, Vol.855 (1), p.109-114

2007

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Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.1953-1958

2011

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Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication

Rapid communications in mass spectrometry, 2009-10, Vol.23 (19), p.3167-3172

2009

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Differential chemical diagnosis of primary hyperoxaluria type II Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives

Journal of chromatography. B, 2005-08, Vol.823 (1), p.2-6

2005

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Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I

Journal of chromatography. B, 2005-08, Vol.823 (1), p.44-46

2005

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Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry : Biomedical Mass Spectrometry

Analytical and bioanalytical chemistry, 2011, Vol.400 (7), p.1953-1958

2011

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Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography–mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2002-08, Vol.776 (1), p.57-63

2002

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Rapid gas chromatographic–mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency

Journal of chromatography. B, 2003-07, Vol.792 (1), p.107-115

2003

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Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.1843-1851

2011

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Effects of DNA Topology on Transformation Efficiency of Bacillus subtilis ISW1214 by Electroporation

Bioscience, biotechnology, and biochemistry, 1997-06, Vol.61 (6), p.1019-1021

1997

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Erratum to: A GC/MS-based metabolomic approach for diagnosing citrin deficiency

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.2270

2011

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A GC/NIS-based metabolomic approach for diagnosing citrin deficiency

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.1881

2011

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A GC/MS-based metabolomic approach for diagnosing citrin deficiency : Biomedical Mass Spectrometry

Analytical and bioanalytical chemistry, 2011, Vol.400 (7), p.1881-1894

2011

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Erratum to: A GC/MS-based metabolomic approach for diagnosing citrin deficiency

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.2271-2271

2011

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Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders

Analytical and bioanalytical chemistry, 2011-06, Vol.400 (7), p.1843

2011

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Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics

A GC/MS-based metabolomic approach for diagnosing citrin deficiency

A biomarker found in cadmium exposed residents of Thailand by metabolome analysis

A Japanese case of β-ureidopropionase deficiency with dysmorphic features

Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency

Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS

Application of optical isomer analysis by diastereomer derivatization GC/MS to determine the condition of patients with short bowel syndrome

Simple and quantitative analysis of urinary sulfated tauro- and glycodihydroxycholic acids in infant with cholestasis by electrospray ionization mass spectrometry

Changes in urinary level and configuration ratio of d-lactic acid in patients with short bowel syndrome

Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry

Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication

Differential chemical diagnosis of primary hyperoxaluria type II Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives

Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I

Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry : Biomedical Mass Spectrometry

Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography–mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency

Rapid gas chromatographic–mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency

Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders

Effects of DNA Topology on Transformation Efficiency of Bacillus subtilis ISW1214 by Electroporation

Erratum to: A GC/MS-based metabolomic approach for diagnosing citrin deficiency

A GC/NIS-based metabolomic approach for diagnosing citrin deficiency

A GC/MS-based metabolomic approach for diagnosing citrin deficiency : Biomedical Mass Spectrometry

Erratum to: A GC/MS-based metabolomic approach for diagnosing citrin deficiency

Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders

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