(Q33961562)

30 July 2017

title

Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine (English)

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Beta-ureidopropionase deficiency

30 July 2017

main subject

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Morimasa Ohse

1

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30 July 2017

Masafumi Matsuo

series ordinal

2

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30 July 2017

Akihito Ishida

series ordinal

3

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30 July 2017

Tomiko Kuhara

series ordinal

4

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30 July 2017

publication date

1 September 2002

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Journal of Mass Spectrometry

30 July 2017

published in

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30 July 2017

volume

37

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30 July 2017

issue

9

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30 July 2017

page(s)

954-962

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Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects

30 July 2017

cites work

1 reference

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

21 January 2018

1 reference

Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity

21 January 2018

1 reference

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene

21 January 2018

1 reference

Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism

21 January 2018

1 reference

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level

21 January 2018

1 reference

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine

21 January 2018

1 reference

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis

21 January 2018

1 reference

Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

21 January 2018

1 reference

Increased excretion of N-carbamoyl compounds in patients with urea cycle defects

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JMS.354

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release_xuxaox7xczcxxl6jf7hzpskige

30 July 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/xuxaox7xczcxxl6jf7hzpskige

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference