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Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.162-168

2019

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Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.76-84

2018

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Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100829-100829, Article 100829

2022

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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.163-169

2022

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Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency

The pharmacogenomics journal, 2013-10, Vol.13 (5), p.389-395

2013

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Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients

European journal of cancer (1990), 2019-04, Vol.111, p.21-29

2019

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Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects

Journal of inherited metabolic disease, 1997-06, Vol.20 (2), p.203-213

1997

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Prevention of fluoropyrimidine toxicity: do we still have to try our patient's luck?

Annals of oncology, 2017-01, Vol.28 (1), p.183-183

2017

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3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients

European journal of cancer (1990), 2018-02, Vol.90, p.102-110

2018

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Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines

Nucleosides, nucleotides & nucleic acids, 2016-12, Vol.35 (10-12), p.613-618

2016

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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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DPYD genotype-guided dose individualization of fluoropyrimidine therapy: A prospective safety and cost-analysis on DPYD variants DPYD2A, c.2846A>T, c.1679T>G and c.1236G>A

Annals of oncology, 2018-10, Vol.29 Suppl 8, p.viii150

2018

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Frequent intragenic rearrangements of DPYD in colorectal tumours

The pharmacogenomics journal, 2015-06, Vol.15 (3), p.211-218

2015

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Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency

The pharmacogenomics journal, 2014-08, Vol.14 (4), p.400-400

2014

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β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.190-194

2008

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Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene

Annals of oncology, 2003-02, Vol.14 (2), p.341-342

2003

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Partial epilepsy in a girl with a symptom‐free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency

Journal of inherited metabolic disease, 1997-09, Vol.20 (5), p.719-720

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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Cyclopentenyl cytosine inhibits cytidine triphosphate synthetase in paediatric acute non-lymphocytic leukaemia: a promising target for chemotherapy

European journal of cancer (1990), 2000-03, Vol.36 (5), p.627-635

2000

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

DNA and cell biology, 1995-01, Vol.14 (1), p.1-6

1995

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A Radiochemical Assay for β-Ureidopropionase Using Radiolabeled N-Carbamyl-β-alanine Obtained via Hydrolysis of [2-14C]5,6-Dihydrouracil

Analytical biochemistry, 1999-08, Vol.272 (2), p.250-253

1999

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534 POSTER Tergeting CTP synthetase by cyclopentenyl cytosine (CPEC) increases the effectiveness of Gemcitabine and radiation in human tumor cells

European journal of cancer supplements, 2006-11, Vol.4 (12), p.162-162

2006

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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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Pharmacokinetics of Bolus 5-Fluorouracil: Relationship Between Dose, Plasma Concentrations, Area-Under-the-Curve and Toxicity

Journal of chemotherapy (Florence), 2005-06, Vol.17 (3), p.315-320

2005

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Cyclopentenyl cytosine inhibits cytidine triphosphate synthetase in paediatric acute non-lymphocytic leukaemia

European journal of cancer (1990), 2000-03, Vol.36 (5), p.627-635

2000

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Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency

Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients

Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects

Prevention of fluoropyrimidine toxicity: do we still have to try our patient's luck?

3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients

Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines

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

DPYD genotype-guided dose individualization of fluoropyrimidine therapy: A prospective safety and cost-analysis on DPYD variants DPYD2A, c.2846A>T, c.1679T>G and c.1236G>A

Frequent intragenic rearrangements of DPYD in colorectal tumours

Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency

β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems

Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene

Partial epilepsy in a girl with a symptom‐free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency

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

Cyclopentenyl cytosine inhibits cytidine triphosphate synthetase in paediatric acute non-lymphocytic leukaemia: a promising target for chemotherapy

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

A Radiochemical Assay for β-Ureidopropionase Using Radiolabeled N-Carbamyl-β-alanine Obtained via Hydrolysis of [2-14C]5,6-Dihydrouracil

534 POSTER Tergeting CTP synthetase by cyclopentenyl cytosine (CPEC) increases the effectiveness of Gemcitabine and radiation in human tumor cells

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

Pharmacokinetics of Bolus 5-Fluorouracil: Relationship Between Dose, Plasma Concentrations, Area-Under-the-Curve and Toxicity

Cyclopentenyl cytosine inhibits cytidine triphosphate synthetase in paediatric acute non-lymphocytic leukaemia

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