Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? - Wikidata - awgldk - TriplyDB

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

http://www.wikidata.org/entity/Q41920518

about

Severe toxicity to capecitabine due to a new variant at a donor splicing site in the dihydropyrimidine dehydrogenase gene

P2860

Q57815793-C3CCBB99-C2EB-4C17-BB3C-A0D514143A2C

P2860

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

http://www.wikidata.org/entity/Q41920518

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

@en

type

label

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

@en

prefLabel

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

@en

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P1433

Journal of Inherited Metabolic Disorders Reports

P1476

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

@en

P2093

A B P van Kuilenburg

http://www.w3.org/2001/XMLSchema#string

J Meijer

http://www.w3.org/2001/XMLSchema#string

J Willomitzer

http://www.w3.org/2001/XMLSchema#string

M Alders

http://www.w3.org/2001/XMLSchema#string

M Fleger

http://www.w3.org/2001/XMLSchema#string

M Huemer

http://www.w3.org/2001/XMLSchema#string

R C M Hennekam

http://www.w3.org/2001/XMLSchema#string

R Meinsma

http://www.w3.org/2001/XMLSchema#string

P2860

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

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

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Angelman syndrome - insights into a rare neurogenetic disorder.

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.

Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation.

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

P304

49-54

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P31

scholarly article

P356

10.1007/8904_2017_14

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P478

37

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P577

2017-03-09T00:00:00Z

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28275972

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P921

dihydropyrimidine dehydrogenase deficiency

P932

5740048

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