Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips.

Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips.

Item
http://www.wikidata.org/entity/Q31654474
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structurePrinciples and applications of liquid chromatography-mass spectrometry in clinical biochemistryClinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findingsAlteration in circulating metabolites during and after heat stress in the conscious rat: potential biomarkers of exposure and organ-specific injuryAltered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy.Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
P2860

Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips.

Item
http://www.wikidata.org/entity/Q31654474
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@ast
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@en
type
label
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@ast
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@en
prefLabel
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@ast
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@en
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
Defects in pyrimidine degradat ...... ne-soaked filter paper strips.
@en
P2093
P304
P31
P407
P433
P478
P577
P698