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Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity

Clinical cancer research, 1998-12, Vol.4 (12), p.2999-3004

1998

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Allopurinol challenge tests performed before and after living‐related donor liver transplantation in citrullinaemia

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.87-88

2003

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Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria

Clinical cancer research, 1996-12, Vol.2 (12), p.1937-1941

1996

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Possible prediction of adverse reactions to fluorouracil by the measurement of urinary dihydrothymine and thymine

International journal of molecular medicine, 1998-10, Vol.2 (4), p.477

1998

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Needlestick injuries to the feet of Japanese healthcare workers: a culture-specific exposure risk

Infection control and hospital epidemiology, 2007-02, Vol.28 (2), p.215-218

2007

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Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil

International journal of molecular medicine, 2000-08, Vol.6 (2), p.177

2000

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Dihydropyrimidinuria without clinical symptoms

Journal of inherited metabolic disease, 1996-01, Vol.19 (5), p.701-702

1996

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Urinary orotic acid in healthy adults and patients with various diseases

Clinica chimica acta, 1997-10, Vol.266 (2), p.195-197

1997

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Usefulness of uracil loading test for detecting 5-fluorouracil metabolic enzyme deficiencies in humans

International journal of clinical oncology, 2000-06, Vol.5 (3), p.171-173

2000

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Pyrimidine metabolism in hereditary orotic aciduria

Journal of inherited metabolic disease, 1997-03, Vol.20 (1), p.104-105

1997

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Dihydropyrimidinase Deficiency: Structural Organization, Chromosomal Localization, and Mutation Analysis of the Human Dihydropyrimidinase Gene

American journal of human genetics, 1998-09, Vol.63 (3), p.717-726

1998

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A case of gastric cancer with decreased dihydropyrimidine dehydrogenase activity

Gan to kagaku ryoho, 1998-07, Vol.25 (8), p.1217

1998

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Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism

Journal of inherited metabolic disease, 1994-09, Vol.17 (5), p.611-615

1994

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Population and family studies of dihydropyrimidinuria: Prevalence, inheritance mode, and risk of fluorouracil toxicity

American journal of medical genetics, 1998-07, Vol.78 (4), p.336-340

1998

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Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria

Journal of inherited metabolic disease, 1993-09, Vol.16 (5), p.872-875

1993

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Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals

Clinica chimica acta, 2001-06, Vol.308 (1), p.187-189

2001

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Nested polymerase chain reaction for the diagnosis and follow-up of tuberculous meningitis: a case report

Kansenshōgaku zasshi, 1992-10, Vol.66 (10), p.1479-1482

1992

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Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases

Pediatrics international, 2000-10, Vol.42 (5), p.499-503

2000

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Identification of glutarylcarnitine in glutaric aciduria type 1

Journal of inherited metabolic disease, 1987-06, Vol.10 (S2), p.279-281

1987

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Uracil phosphoribosyltransferase activity in hereditary orotic aciduria

Clinica chimica acta, 1999-05, Vol.283 (1), p.201-203

1999

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Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio

Advances in experimental medicine and biology, 1998, Vol.431, p.191

1998

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Screening for Pyrimidine Metabolism Disorders Using Dried Filter-Paper Urine Samples: Method Development and a Pilot Study in Nagoya City, Japan

The Tohoku Journal of Experimental Medicine, 2000, Vol.190(1), pp.23-32

2000

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Hereditary Orotic Aciduria Heterozygotes Accompanied with Neurological Symptoms

The Tohoku Journal of Experimental Medicine, 1998, Vol.185(1), pp.67-70

1998

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Effect of Carnitine Administration on Glycine Metabolism in Patients with Isovaleric Acidemia: Significance of Acetylcarnitine Determination to Estimate the Proper Carnitine Dose

The Tohoku Journal of Experimental Medicine, 1996, Vol.179(2), pp.101-109

1996

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Alteration of Ammonia and Carnitine Levels in Short-Term Treatment with Pivalic Acid-Containing Prodrug

The Tohoku Journal of Experimental Medicine, 1995, Vol.175(1), pp.43-53

1995

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Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity

Allopurinol challenge tests performed before and after living‐related donor liver transplantation in citrullinaemia

Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria

Possible prediction of adverse reactions to fluorouracil by the measurement of urinary dihydrothymine and thymine

Needlestick injuries to the feet of Japanese healthcare workers: a culture-specific exposure risk

Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil

Dihydropyrimidinuria without clinical symptoms

Urinary orotic acid in healthy adults and patients with various diseases

Usefulness of uracil loading test for detecting 5-fluorouracil metabolic enzyme deficiencies in humans

Pyrimidine metabolism in hereditary orotic aciduria

Dihydropyrimidinase Deficiency: Structural Organization, Chromosomal Localization, and Mutation Analysis of the Human Dihydropyrimidinase Gene

A case of gastric cancer with decreased dihydropyrimidine dehydrogenase activity

Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism

Population and family studies of dihydropyrimidinuria: Prevalence, inheritance mode, and risk of fluorouracil toxicity

Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria

Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals

Nested polymerase chain reaction for the diagnosis and follow-up of tuberculous meningitis: a case report

Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases

Identification of glutarylcarnitine in glutaric aciduria type 1

Uracil phosphoribosyltransferase activity in hereditary orotic aciduria

Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio

Screening for Pyrimidine Metabolism Disorders Using Dried Filter-Paper Urine Samples: Method Development and a Pilot Study in Nagoya City, Japan

Hereditary Orotic Aciduria Heterozygotes Accompanied with Neurological Symptoms

Effect of Carnitine Administration on Glycine Metabolism in Patients with Isovaleric Acidemia: Significance of Acetylcarnitine Determination to Estimate the Proper Carnitine Dose

Alteration of Ammonia and Carnitine Levels in Short-Term Treatment with Pivalic Acid-Containing Prodrug

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