Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects (Q41521423)

2 October 2017

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title

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

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2 October 2017

van Gennip AH

1

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2 October 2017

Abeling NG

series ordinal

2

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2 October 2017

Vreken P

series ordinal

3

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2 October 2017

van Kuilenburg AB

series ordinal

4

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2 October 2017

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

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2 October 2017

20

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2 October 2017

2

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2 October 2017

203-213

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https://scigraph.springernature.com/pub.10.1023/a:1005356806329

2 October 2017

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cites work

A new case of dihydropyrimidine dehydrogenase deficiency.

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12 December 2020

Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.

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12 December 2020

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12 December 2020

Dihydropyrimidinuria: the first case in Japan

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12 December 2020

Linear relationship between the R- and S-enantiomers of a beta-aminoisobutyric acid in human urine

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12 December 2020

Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn

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12 December 2020

Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency

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12 December 2020

New defects of pyrimidine metabolism

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12 December 2020

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

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12 December 2020

A GENE AFFECTING THE RATE OF PYRIMIDINE DEGRADATION IN MICE

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12 December 2020

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency

1 reference

12 December 2020

Determination of dihydropyrimidine dehydrogenase (DPD) in fibroblasts of a DPD deficient pediatric patient and family members using a polyclonal antibody to human DPD

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12 December 2020

Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome

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12 December 2020

Clinical and biochemical findings in six patients with pyrimidine degradation defects

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12 December 2020

beta-Aminoisobutyric acid as a marker of thymine catabolism in malignancy

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12 December 2020

Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

1 reference

12 December 2020

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

1 reference

12 December 2020

D-β-Aminoisobutyrate:pyruvate Aminotransferase in Mammalian Liver and Excretion of β-Aminoisobutyrate by Man

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12 December 2020

A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution

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12 December 2020

The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency

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12 December 2020

Inherited disorders of GABA metabolism

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12 December 2020

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects

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12 December 2020

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

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12 December 2020

Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.

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12 December 2020

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

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12 December 2020

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes

1 reference

12 December 2020

Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts

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12 December 2020

Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.

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12 December 2020

Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria

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12 December 2020

Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.

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12 December 2020

Family studies on the urinary excretion of beta-aminoisobutyric acid

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12 December 2020

Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy

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12 December 2020

cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria

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12 December 2020

Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia

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12 December 2020

Dihydropyrimidine dehydrogenase deficiency--a further case

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12 December 2020

Deficiency of d-β-aminoisobutyrate: Pyruvate aminotransferase in the liver of genetic high excretors of d-β-aminosobutyrate

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12 December 2020

Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation

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12 December 2020

Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome

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12 December 2020

Identifiers

DOI

10.1023/A:1005356806329

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Dimensions Publication ID

2 October 2017

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