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Reduced replication of 3TC‐resistant HIV‐1 variants in primary cells due to a processivity defect of the reverse transcriptase enzyme

The EMBO journal, 1996-08, Vol.15 (15), p.4040-4049

1996

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Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.442-487

1999

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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Human genetics, 1999-01, Vol.104 (1), p.1-9

1999

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Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.302-306

1999

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X-linked borderline mental retardation with prominent behavioral disturbance : phenotype, genetic localization, and evidence for disturbed monoamine metabolism

American journal of human genetics, 1993-06, Vol.52 (6), p.1032-1039

1993

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Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

European journal of cancer (1990), 1997-11, Vol.33 (13), p.2258-2264

1997

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Dihydropyrimidine dehydrogenase deficiency presenting at birth

Journal of inherited metabolic disease, 2005-09, Vol.28 (5), p.793-796

2005

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Pharmacokinetics of S-1, an oral formulation of ftorafur, oxonic acid and 5-chloro-2,4-dihydroxypyridine (molar ratio 1:0.4:1) in patients with solid tumors

Cancer chemotherapy and pharmacology, 2003-07, Vol.52 (1), p.1-12

2003

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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene

British journal of cancer, 2002-04, Vol.86 (7), p.1028-1033

2002

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Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.307-310

1999

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Dihydropyrimidine dehydrogenase (DPD) deficiency : identification and expression of missense mutations C29R, R886H and R235W

Human genetics, 1997-12, Vol.101 (3), p.333-338

1997

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Safe administration of irinotecan, oxaliplatin and raltitrexed in a DPD-deficient patient with metastatic colon cancer

Annals of oncology, 2001-04, Vol.12 (4), p.569-571

2001

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Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips

Clinical chemistry (Baltimore, Md.), 2000-04, Vol.46 (4), p.445-452

2000

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Clinical features of galactokinase deficiency: A review of the literature

Journal of inherited metabolic disease, 2002-12, Vol.25 (8), p.629-634

2002

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Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

Journal of inherited metabolic disease, 2004-01, Vol.27 (4), p.513-522

2004

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Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Journal of lipid research, 2003-03, Vol.44 (3), p.560-566

2003

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Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency

Neuropediatrics, 2006-02, Vol.37 (1), p.20

2006

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Activity of Pyrimidine Degradation Enzymes in Normal Tissues

Nucleosides, nucleotides & nucleic acids, 2006-06, Vol.25 (9-11), p.1211-1214

2006

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Pitfalls in the Diagnosis of Patients with a Partial Dihydropyrimidine Dehydrogenase Deficiency

Clinical chemistry (Baltimore, Md.), 2000-01, Vol.46 (1), p.9-17

2000

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Cyclopentenyl cytosine induces apoptosis and increases cytarabine-induced apoptosis in a T-lymphoblastic leukemic cell-line

Leukemia research, 2001-10, Vol.25 (10), p.891-900

2001

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Prevalence of a Common Point Mutation in the Dihydropyrimidine Dehydrogenase (DPD) Gene within the 5′-Splice Donor Site of Intron 14 in Patients with Severe 5-Fluorouracil (5-FU)- related Toxicity Compared with Controls

Clinical cancer research, 2001-09, Vol.7 (9), p.2832-2839

2001

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Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects

British journal of clinical pharmacology, 1998-08, Vol.46 (2), p.151-156

1998

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Defects in Pyrimidine Degradation Identified by HPLC-Electrospray Tandem Mass Spectrometry of Urine Specimens or Urine-soaked Filter Paper Strips

Clinical chemistry (Baltimore, Md.), 2000-12, Vol.46 (12), p.1916-1922

2000

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Tyrosine hydroxylase deficiency unresponsive to L‐dopa treatment with unusual clinical and biochemical presentation

Journal of inherited metabolic disease, 2000-12, Vol.23 (8), p.819-825

2000

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Clinical Implications of Dihydropyrimidine Dehydrogenase (DPD) Deficiency in Patients with Severe 5-Fluorouracil-associated Toxicity: Identification of New Mutations in the DPD Gene

Clinical cancer research, 2000-12, Vol.6 (12), p.4705-4712

2000

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Reduced replication of 3TC‐resistant HIV‐1 variants in primary cells due to a processivity defect of the reverse transcriptase enzyme

Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

X-linked borderline mental retardation with prominent behavioral disturbance : phenotype, genetic localization, and evidence for disturbed monoamine metabolism

Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

Dihydropyrimidine dehydrogenase deficiency presenting at birth

Pharmacokinetics of S-1, an oral formulation of ftorafur, oxonic acid and 5-chloro-2,4-dihydroxypyridine (molar ratio 1:0.4:1) in patients with solid tumors

Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders

Dihydropyrimidine dehydrogenase (DPD) deficiency : identification and expression of missense mutations C29R, R886H and R235W

Safe administration of irinotecan, oxaliplatin and raltitrexed in a DPD-deficient patient with metastatic colon cancer

Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips

Clinical features of galactokinase deficiency: A review of the literature

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency

Activity of Pyrimidine Degradation Enzymes in Normal Tissues

Pitfalls in the Diagnosis of Patients with a Partial Dihydropyrimidine Dehydrogenase Deficiency

Cyclopentenyl cytosine induces apoptosis and increases cytarabine-induced apoptosis in a T-lymphoblastic leukemic cell-line

Prevalence of a Common Point Mutation in the Dihydropyrimidine Dehydrogenase (DPD) Gene within the 5′-Splice Donor Site of Intron 14 in Patients with Severe 5-Fluorouracil (5-FU)- related Toxicity Compared with Controls

Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects

Defects in Pyrimidine Degradation Identified by HPLC-Electrospray Tandem Mass Spectrometry of Urine Specimens or Urine-soaked Filter Paper Strips

Tyrosine hydroxylase deficiency unresponsive to L‐dopa treatment with unusual clinical and biochemical presentation

Clinical Implications of Dihydropyrimidine Dehydrogenase (DPD) Deficiency in Patients with Severe 5-Fluorouracil-associated Toxicity: Identification of New Mutations in the DPD Gene

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