A. H. Gennip

发表

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

P. Vreken, A. B. Kuilenburg, R. Meinsma, 1996, Journal of Inherited Metabolic Disease.

Identification of a four-base deletion (delTCAT296–299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression

P. Vreken, A. B. Kuilenburg, R. Meinsma, 1997, Human Genetics.

Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients

A. B. Kuilenburg, A. H. Gennip, E. Mul, 1999, British Journal of Cancer.

Inborn Errors of Purine and Pyrimidine Metabolism

W. Nyhan, J. Bierau, A. H. Gennip, 2006 .

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

H. Caron, J. Bierau, A. H. Gennip, 2005, Cancer Chemotherapy and Pharmacology.

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

G. Peters, G. Giaccone, J. Wanders, 2003, Cancer Chemotherapy and Pharmacology.

Thee cytostatic- and differentiation-inducing effects of cyclopentenyll cytosine on neuroblastoma cell lines

J. Bierau, A. H. Gennip, J. Helleman, 2007 .

Dihydropyrimidine dehydrogenase deficiency presenting at birth

A. B. Kuilenburg, A. H. Gennip, N. Al-Sanna'a, 2005, Journal of Inherited Metabolic Disease.

Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

N. Abeling, H. Bakker, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

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.

H. Caron, J. Bierau, A. H. Gennip, 2004, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Clinical and biochemical findings in six patients with pyrimidine degradation defects

N. Abeling, H. Bakker, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

Cytidine Triphosphate Synthase Activity and mRNA Expression in Normal Human Blood Cells

P. Vreken, P. Voûte, A. B. Kuilenburg, 1999, Biological chemistry.

Reference Values for Automated Cytochemical Differential Count of Leukocytes in Children 0 — 16 Years Old: Comparison with Manually Obtained Counts from Wright-Stained Smears

A. Hart, N. Abeling, A. H. Gennip, 1985, Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie.

CHAPTERR 5 Cardiolipi nn deficiency in X-linked cardioskeletal myopathy and neutropenia ( Barthh syndrome , MIM 302060 ) : a study in cultured skin fibroblasts

P. Vreken, F. Baas, R. Wanders, 2007 .

Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects.

A. B. Kuilenburg, A. H. Gennip, 2002 .

Confirmation of the Enzyme Defect in the First Case of β-Ureidopropionase Deficiency

G. Hoffmann, C. Bräutigam, A. B. Kuilenburg, 2002 .

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

A. B. Kuilenburg, A. H. Gennip, H. Lenthe, 1999 .

Radiochemical assay for determination of dihydropyrimidinase activity using reversed-phase high-performance liquid chromatography

A. B. Kuilenburg, A. H. Gennip, H. Lenthe, 1999 .

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect

R. Wanders, R. Sengers, N. Abeling, 1993, Pediatric Research.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts

R. Schutgens, A. Ketel, P. Barth, 1996, Journal of Inherited Metabolic Disease.

A new case of dihydropyrimidine dehydrogenase deficiency

C. Jakobs, L. Smit, A. H. Gennip, 1990, Journal of Inherited Metabolic Disease.

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

N. Abeling, A. B. Kuilenburg, H. Bakker, 1995, Journal of Inherited Metabolic Disease.

Original Paper H eterozygosity for a Point M utation in an Invariant Splice D onor Site o f Dihydropyrim idine Dehydrogenase and Severe 5-Fluorouracil Related Toxicity

R. D. Abreu, A. H. Gennip, A. Amsterdam, 1997 .

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

W. Keulen, B. Berkhout, C. Boucher, 1996, The EMBO journal.

The detection of molybdenum cofactor deficiency: Clinical symptomatology and urinary metabolite profile

N. Abeling, H. Bakker, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency

R. Wanders, R. Schutgens, R. Wanders, 1994, European Journal of Pediatrics.

The effect of molybdenum cofactor deficiency on the purine pattern of cerebrospinal fluid

N. Abeling, A. H. Gennip, A. Stroomer, 1991, Journal of Inherited Metabolic Disease.

Molybdenum cofactor deficiency can mimic postanoxic encephalopathy

R. Wanders, N. Abeling, H. Bakker, 1993, Journal of Inherited Metabolic Disease.

L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

M. Durán, S. K. Wadman, J. Kamerling, 1980, Journal of Inherited Metabolic Disease.

phosphatidic acid metabolism in response to environmental stress

T. Munnik, F. Valianpour, S. Arisz, 2010 .

Simultaneous determination of F-β-alanine and β-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography

G. Peters, A. B. Kuilenburg, A. H. Gennip, 2001 .

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction

R. Wanders, R. Schutgens, N. Abeling, 1993, Journal of Inherited Metabolic Disease.

Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency

A. B. Kuilenburg, R. D. Abreu, A. H. Gennip, 2003 .

P-Aminoisobutyric acid as a marker catabolism in malignancy

A. H. Gennip, A. V. Erven, Eline J. van Bree-Blom, 1987 .

Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis

H. Brunner, N. Abeling, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

Purine and pyrimidine metabolism in man

G. Peters, A. H. Gennip, G. Berghe, 1993, Pharmacy World and Science.

Neonatal cardiomyopathy and lactic acidosis responsive to thiamine

N. Abeling, H. Bakker, A. H. Gennip, 1991, Journal of Inherited Metabolic Disease.

Adenine nucleotide translocator deficiency in muscle: Potential therapeutic value of vitamin E

R. Wanders, N. Abeling, H. Bakker, 1993, Journal of Inherited Metabolic Disease.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation

R. Wanders, L. Ijlst, C. Jakobs, 1990, Journal of Inherited Metabolic Disease.

A far advanced case of gyrate atrophy in a 12-year-old girl

R. Wanders, N. Abeling, H. Bakker, 1991, Journal of Inherited Metabolic Disease.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

Kinetic Properties of CTP Synthetase from Hl-60 Cells

L. Elzinga, A. B. Kuilenburg, A. H. Gennip, 1998 .

The roles of uridine-cytidine kinase and CTP synthetase in the synthesis of CTP in malignant human T-lymphocytic cells.

A. B. Kuilenburg, A. H. Gennip, H. Lenthe, 1995 .

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

A. B. Kuilenburg, A. H. Gennip, H. Lenthe, 1996 .

Dihydropyrimidine Dehydrogenase Deficiency

P. Vreken, A. B. Kuilenburg, A. H. Gennip, 1998 .

Genetic metabolic disease of pyrimidine metabolism : Implications for diagnosis and treatment

P. Vreken, N. Abeling, A. B. Kuilenburg, 1997 .

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

A. Cruchten, N. Abeling, H. Bakker, 1989 .

Deficiency of pyrimidine 5′-nucleotidase in human leukocytes

D. Roos, J. Sijstermans, A. H. Gennip, 1989, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

R. Schutgens, K. Rajagopalan, J. Johnson, 1991, Journal of Inherited Metabolic Disease.

Activity of pyrimidine degradation enzymes in normal tissues.

A. B. Kuilenburg, A. H. Gennip, H. Lenthe, 2006 .

Beta-ureidopropionase deficiency

A. B. Kuilenburg, A. H. Gennip, 2009 .

Improved selectivity of urinary oligosaccharide screening using two one-dimensional TLC systems

N. Abeling, A. H. Gennip, H. Rusch, 1996, Journal of Inherited Metabolic Disease.

Defects in metabolism of purines and pyrimidines

A. H. Gennip, 1999 .

FLOW CYTOCHEMICAL PATTERNS OF WHITE BLOOD CELLS IN HUMAN HAEMATOPOIETIC MALIGNANCIES

N. Abeling, A. H. Gennip, H. Behrendt, 1987 .

Purine and Pyrimidine Disorders

H. Simmonds, A. H. Gennip, 2003 .

Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency.

A. V. van Kuilenburg, H. van Lenthe, A. H. Gennip, 2000, Clinical chemistry.

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.

A. V. van Kuilenburg, K. Höffken, A. H. Gennip, 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.

F. Baas, H. Waterham, A. V. van Kuilenburg, 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.

P. Vreken, A. V. van Kuilenburg, J. Haasjes, 2000, Clinical cancer research : an official journal of the American Association for Cancer Research.

Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation

P. Vreken, A. V. van Kuilenburg, E. Christensen, 1998, Journal of Inherited Metabolic Disease.

Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli

P. Vreken, M. Durán, F. Beemer, 1998, Journal of inherited metabolic disease.

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

P. Vreken, A. B. Kuilenburg, R. Meinsma, 1997, Human Genetics.

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene

P. Vreken, A. V. van Kuilenburg, R. Meinsma, 1997, Journal of Inherited Metabolic Disease.

Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli.

P. Vreken, R. Meinsma, A. H. Gennip, 1998 .

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

A. V. van Kuilenburg, F. Gonzalez, P. Fernández-Salguero, 1995, DNA and cell biology.

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

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

M. Nelen, H. Brunner, E. Wolters, 1993, American journal of human genetics.

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

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

P. Vreken, R. Wanders, A. E. V. van Lint, 1999, Journal of Inherited Metabolic Disease.

Mrp2-deficiency in the rat impairs biliary and intestinal excretion and influences metabolism and disposition of the food-derived carcinogen 2-amino-1-methyl-6-phenylimidazo.

A. V. Van Gennip, A. Bootsma, C. Dietrich, 2001, Carcinogenesis.

Deletion Syndrome

A. L. Wong, F. Mastaglia, M. Benatar, 2019 .

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

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

P. Vreken, R. Wanders, A. E. V. van Lint, 1999, Journal of Inherited Metabolic Disease.

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

A H van Gennip, D. Murphy, H. Brunner, 1996, The Journal of clinical investigation.

Thee cytostatic- and differentiation-inducing effects of cyclopentenyll cytosine on neuroblastoma cell lines

J. Bierau, A. H. Gennip, J. Helleman, 2007 .

Clinical Findings and a Therapeutic Trial in the First Patient with β-Ureidopropionase Deficiency

A. V. van Kuilenburg, R. Wevers, E. Mayatepek, 2006, Neuropediatrics.

UvA-DARE ( Digital Academic Repository ) Menadione inhibits MIBG uptake in two neuroendocrine cell lines

A. V. van Kuilenburg, G. Tytgat, A. H. Gennip, 1997 .

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency

R. Wevers, P. Barth, N. Abeling, 2000, Journal of Inherited Metabolic Disease.

Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

P. Barth, N. Abeling, F. Wijburg, 1998, Journal of Inherited Metabolic Disease.

Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicity.

H. Waterham, J. Haasjes, L. Zoetekouw, 2002 .

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

Y. Wada, A. V. van Kuilenburg, H. van Lenthe, 2000, Clinical chemistry.

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

M. Durán, A. V. van Kuilenburg, R. Wevers, 1997, Journal of Inherited Metabolic Disease.

Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria

P. Vreken, A. V. van Kuilenburg, H. van Lenthe, 1997, Journal of Inherited Metabolic Disease.

Andersen-Tawil syndrome

E. Viding, G. Kojda, M. Digilio, 2020, Definitions.

Studies on the incorporation of precursors into purine and pyrimidine nucleotides via 'de novo' and 'salvage' pathways in normal lymphocytes and lymphoblastic cell-line cells.

D. Roos, A. H. Gennip, D. de Korte, 1989, Biochimica et biophysica acta.

Disorders of mitochondrial fatty acyl-CoA β-oxidation

F. A. Wijburg, P. Vreken, R. Wanders, 1999, Journal of Inherited Metabolic Disease.

Pyrimidine Degradation Defects and Severe 5-Fluorouracil Toxicity

R. Meinsma, A. H. Gennip, A. V. Kuilenburg, 2005 .

Androgen insensitivity syndrome.

T. Bourgeron, E. Viding, G. Kojda, 2019, Bailliere's clinical endocrinology and metabolism.

UvA-DARE ( Digital Academic Repository ) Plant phosphatidic acid metabolism in response to environmental stress

T. Munnik, F. Valianpour, A. H. Gennip, 2010 .

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.

Y. Wada, A. V. van Kuilenburg, A. Bootsma, 2000, Clinical chemistry.

Formiminoglutamic/hydantoinpropionic aciduria in three patients with different tumours

N. Abeling, H. Bakker, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects.

P. Vreken, J. Sludden, H. McLeod, 1998, British Journal of Clinical Pharmacology.

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

P. Vreken, A. V. van Kuilenburg, H. van Lenthe, 1997, European journal of cancer.

Clinical features of galactokinase deficiency:A review of the literature

R. Wanders, F. Wijburg, A. Bosch, 2003, Journal of Inherited Metabolic Disease.

Developmental dysplasia of the hip

K. Lohmann, J. Schulzke, Peter L. M. Jansen, 2009, BMJ : British Medical Journal.

The effect of the neuroblastoma-seeking agent meta-iodobenzylguanidine (MIBG) on NADH-driven superoxide formation and NADH-driven lipid peroxidation in beef heart submitochondrial particles.

A. V. van Kuilenburg, P. Voûte, A. H. Gennip, 1997, European journal of cancer.