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Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

artículo científico publicado en 2002

Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry

artículo científico publicado en 2004

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

scientific article published on 01 July 2003

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

artículo científico publicado en 2002

Combination therapy in childhood leukaemia: in vitro studies of thiopurines and inhibitors of purine metabolism on apoptosis

artículo científico publicado en 2003

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

scientific journal article

Cyclopentenyl cytosine increases the phosphorylation and incorporation into DNA of 1-beta-D-arabinofuranosyl cytosine in a human T-lymphoblastic cell line

artículo científico publicado en 2002

Cyclopentenyl cytosine primes SK-N-BE(2)c neuroblastoma cells for cytarabine toxicity

artículo científico publicado en 2003

Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma

artículo científico publicado en 2005

Determination of the deoxycytidine kinase activity in cell homogenates with a non-radiochemical assay using reversed-phase high performance liquid chromatography; Identification of a novel metabolite of 2-chlorodeoxyadenosine

artículo científico publicado en 2004

Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.

artículo científico publicado en 2003

Ganciclovir nucleotides accumulate in mitochondria of rat liver cells expressing the herpes simplex virus thymidine kinase gene

artículo científico publicado en 2003

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity

artículo científico publicado en 2002

Histone deacetylases (HDACs): characterization of the classical HDAC family

artículo científico publicado en 2003

Increased plasma carnitine concentrations in preeclampsia

artículo científico publicado en 2004

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

artículo científico publicado en 2002

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

artículo científico publicado en 2005

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

artículo científico publicado en 2004

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

artículo científico publicado en 2002

Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency

artículo científico publicado en 2003

Phenylketonuria and glycogen storage disease type III in sibs of one family

artículo científico publicado en 2002

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

artículo científico publicado en 2002

Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency

artículo científico publicado en 2003

Retinoic acid reduces the cytotoxicity of cyclopentenyl cytosine in neuroblastoma cells

artículo científico publicado en 2002

Substrate preference of stress-activated phospholipase D in Chlamydomonas and its contribution to PA formation

artículo científico publicado en 2003

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

scientific journal article