N. Abeling

发表

Dopaminergic modulation of the human reward system: a placebo-controlled dopamine depletion fMRI study

T. van Amelsvoort, G. Hasler, M. Figee, 2011, Journal of psychopharmacology.

Neuroblastoma stage 4S: Tumor regression rate and risk factors of progressive disease

C. Zwaan, J. Molenaar, B. de Keizer, 2019, Pediatric Blood & Cancer.

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients.

A. V. van Kuilenburg, H. Caron, C. Zwaan, 2017, European journal of cancer.

Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection.

A. V. Van Gennip, P. Voûte, N. Abeling, 1984, Clinica chimica acta; international journal of clinical chemistry.

Dopaminergic modulation of human reward system: a placebo controlled dopamine depletion fMRI study

G. Hasler, M. Figee, A. Nederveen, 2009, NeuroImage.

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

H. Freeze, B. G. Ng, M. Durán, 2007, Molecular genetics and metabolism.

Perioperative hyperinsulinaemic normoglycaemic clamp causes hypolipidaemia after coronary artery surgery.

E. de Jonge, B. D. de Mol, F. Hoek, 2008, British journal of anaesthesia.

The role of I-131-MIBG in the diagnosis and therapy of carcinoids

B. Taal, N. Abeling, C. Hoefnagel, 2004, European Journal of Nuclear Medicine.

Persistent decline in estimated but not measured glomerular filtration rate on tenofovir may reflect tubular rather than glomerular toxicity

H. Furrer, P. Reiss, R. Krediet, 2011, AIDS.

Eniluracil treatment completely inactivates dihydropyrimidine dehydrogenase in colorectal tumors.

S. J. Johnston, H. McLeod, F. Ahmed, 1999, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

CARDIOVASCULAR Perioperative hyperinsulinaemic normoglycaemic clamp causes hypolipidaemia after coronary artery surgery

F. Hoek, E. Jonge, N. Abeling, 2008 .

UvA-DARE ( Digital Academic Repository ) Rett syndrome : Neurologic and metabolic aspects

M. Durán, N. Abeling, J. Koelman, 2013 .

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

R. Hennekam, C. V. van Karnebeek, P. Barth, 2005, American journal of mental retardation : AJMR.

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.

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

A. V. van Kuilenburg, L. Zoetekouw, H. van Lenthe, 2004, Human molecular genetics.

Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine

H. Mandel, M. Durán, U. Engelke, 2001, Journal of Inherited Metabolic Disease.

Clinical and biochemical findings in six patients with pyrimidine degradation defects

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

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

H. Waterham, L. Ijlst, R. Wanders, 2012, Orphanet Journal of Rare Diseases.

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

C. Stoll, R. Wevers, J. Launay, 2000, Journal of Inherited Metabolic Disease.

Quantification of free and total sialic acid excretion by LC-MS/MS.

R. Berger, N. Abeling, T. D. de Koning, 2007, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia – relationship with COMT Val108/158 Met polymorphism, gender and symptomatology

T. van Amelsvoort, F. Baas, D. Linszen, 2011, Journal of psychopharmacology.

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.

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

P. Vreken, M. Durán, E. Holme, 1999, Human Genetics.

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

A. V. van Kuilenburg, H. van Lenthe, N. Abeling, 2004, The Biochemical journal.

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

L. Elzinga, N. Abeling, S. Busch, 1993, Clinical chemistry.

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.

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.

Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study

M. Durán, B. Poll-The, N. Abeling, 2012, Journal of child neurology.

Clinical and Electroencephalographic Effects of Folinic Acid Treatment in Rett Syndrome Patients

M. Durán, B. Poll-The, N. Abeling, 2011, Journal of child neurology.

Biochemical monitoring of children with neuroblastoma.

P. Voûte, N. Abeling, H. Overmars, 1986, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Cystathioninuria in patients with neuroblastoma.

P. Voûte, J. van der Zee, N. Abeling, 1984, Medical and pediatric oncology.

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.

M. Durán, F. Valianpour, N. Abeling, 2004, Clinical chemistry.

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.

A homozygous nonsense mutation in the methylmalonyl‐CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

H. Waterham, R. Wanders, W. Kleijer, 2006, Human Mutation.

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.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation☆

N. Abeling, E. Struys, G. Salomons, 2016, Molecular genetics and metabolism reports.

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.

Molybdenum-Cofactor Deficiency: An Easily Missed Cause of Neonatal Convulsions

H. Slot, P. Barth, P. Tamminga, 1993, Neuropediatrics.

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

M. Durán, B. Poll-The, C. Majoie, 2014, Molecular genetics and metabolism.

Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?

P. Vreken, N. Abeling, J. Groener, 2001, European Journal of Human Genetics.

An aetiological study of 25 mentally retarded adults with autism [research letter]

P. Vreken, R. Hennekam, C. V. van Karnebeek, 2002 .

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

P. Vreken, R. Hennekam, N. Abeling, 2002 .

Pyridoxin dependent epilepsy: Clinical features and progressive serial MRI abnormalities

B. Poll-The, N. Abeling, J. Koelman, 2013 .

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.

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

P. Voûte, N. Abeling, A. V. van Gennip, 1987, Clinica chimica acta; international journal of clinical chemistry.

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

H. Waterham, R. Wanders, M. Durán, 2010, 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.

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

A. V. van Kuilenburg, H. Caron, C. Zwaan, 2018, European journal of cancer.

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.

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.

Mild learning difficulties and offending behaviour – is there a link with monoamine oxidase A deficiency?

H. Gurling, N. Abeling, A. V. van Cruchten, 2001, Psychiatric genetics.

Monoamine oxidase A deficiency: biogenic amine metabolites in random urine samples.

H. Brunner, N. Abeling, A. V. van Cruchten, 1998, Journal of neural transmission. Supplementum.

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

P. Vreken, A. V. van Kuilenburg, N. Abeling, 1997, Journal of Inherited Metabolic Disease.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

P. Vreken, N. Abeling, J. Groener, 2001, European journal of human genetics : EJHG.

Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

P. Vreken, H. Blom, R. Wevers, 1999, Journal of Inherited Metabolic Disease.

Neonatal cardiomyopathy and lactic acidosis responsive to thiamine

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

Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine.

N. Abeling, S. Busch, A. V. van Gennip, 1991, Advances in experimental medicine and biology.

Diagnosis and treatment of malignant pheochromocytoma with 131I-meta-iodobenzylguanidine: a case report.

P. Bruning, C. Hoefnagel, N. Abeling, 1990, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

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

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

Analysis of Pyrimidine Synthesis De Novo Intermediates in Urine During Crisis of a Patient with Ornithine Transcarbamylase Deficiency

M. Durán, A. V. van Kuilenburg, N. Abeling, 2006, Nucleosides, Nucleotides & Nucleic Acids.

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

M. Durán, B. Poll-The, N. Abeling, 2013, Journal of Inherited Metabolic Disease.

Two Greek siblings with sepiapterin reductase deficiency.

D. Zafeiriou, M. Verbeek, R. Wevers, 2008, Molecular genetics and metabolism.

[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency].

S. K. Wadman, N. Abeling, J. Van Biervliet, 1977, Archives francaises de pediatrie.

Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after N-cetylpyridiniumchloride (CPC) precipitation: a method suitable for the routine laboratory.

S. K. Wadman, N. Abeling, A. V. van Gennip, 1974, Clinica chimica acta; international journal of clinical chemistry.

Serotonergic, noradrenergic and dopaminergic markers are related to cognitive function in adults with 22q11 deletion syndrome.

T. van Amelsvoort, E. Boot, M. Drukker, 2014, The international journal of neuropsychopharmacology.

Disrupted Dopaminergic Neurotransmission in 22q11 Deletion Syndrome

F. Baas, D. Linszen, L. Haan, 2008, Neuropsychopharmacology.

Hyperaminoaciduria identifies patients at risk of developing renal tubular toxicity associated with ifosfamide and platinate containing regimens.

P. Voûte, N. Abeling, H. Caron, 1992, Medical and pediatric oncology.

Numerical changes in the various peripheral white blood cells in children as a result of antineoplastic therapy.

N. Abeling, H. Behrendt, A. V. van Gennip, 1984, Acta haematologica.

Time after time: biological factors in the course of recurrent depression

A. Schene, M. Durán, G. Weverling, 2013 .

Plasma and Erythrocyte Fatty Acid Patterns in Patients with Recurrent Depression: A Matched Case-Control Study

F. Pouwer, A. Schene, M. Durán, 2010, PloS one.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

A. V. van Kuilenburg, L. Zoetekouw, Y. Takeshima, 2014, Journal of Inherited Metabolic Disease.

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

A. V. van Kuilenburg, L. Zoetekouw, A. Polizzi, 2015, JIMD reports.

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.

Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis

H. Mandel, M. Berant, A. Luder, 2000, Prenatal diagnosis.

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

M. Durán, N. Blau, B. Poll-The, 2006, Molecular genetics and metabolism.

Sepiapterin reductase de W ciency an autosomal recessive DOPA-responsive dystonia

M. Durán, N. Blau, B. Poll-The, 2006 .

Normal kynurenine metabolism in 2-oxoadipic aciduria

A. Sewell, N. Abeling, H. Böhles, 1999, Journal of Inherited Metabolic Disease.

L-2-Hydroxyglutaric aciduria and lactic acidosis

P. Vreken, R. Wanders, R. Schutgens, 1998, Journal of Inherited Metabolic Disease.

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

P. Vreken, A. V. van Kuilenburg, D. Riva, 1999, Journal of Inherited Metabolic Disease.

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 .

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

M. Durán, A. V. van Kuilenburg, L. Zoetekouw, 2007, Molecular genetics and metabolism.

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

H. Mandel, M. Berant, J. Reiss, 1998, American journal of human genetics.

Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis.

M. Tijssen, N. Abeling, T. D. de Koning, 2012, JIMD reports.

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

T. van Amelsvoort, A. Bassett, L. Bour, 2017, Psychological Medicine.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

A. V. van Kuilenburg, L. Zoetekouw, R. Hennekam, 2012, Biochimica et biophysica acta.

Genetic Analysis of the First 4 Patients with β-Ureidopropionase Deficiency

A. V. van Kuilenburg, R. Wevers, A. Ribes, 2006, Nucleosides, nucleotides & nucleic acids.

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

A. V. van Kuilenburg, J. Lee, N. Abeling, 2015, JIMD reports.

β‐Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus

M. Durán, T. Rosenbaum, E. Mayatepek, 2006, Epilepsia.

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

A. V. van Kuilenburg, H. van Lenthe, N. Abeling, 1997, Journal of Inherited Metabolic Disease.

Dopaminergic modulation of the reward system in schizophrenia: A placebo-controlled dopamine depletion fMRI study

G. Hasler, A. Nederveen, D. Linszen, 2013, European Neuropsychopharmacology.

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.

1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

A. Heerschap, R. D. De Abreu, U. Engelke, 1997, 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.

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

M. Häring, K. Zerres, N. Blau, 2001, Molecular genetics and metabolism.

FLOW CYTOCHEMICAL PATTERNS OF WHITE BLOOD CELLS IN HUMAN HAEMATOPOIETIC MALIGNANCIES

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

Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography.

N. Abeling, H. Overmars, A. V. van Gennip, 1990, Clinical chemistry.

Pediatric Reference Values for Calcium, Magnesium and Inorganic Phosphorus in Serum Obtained from Bhattacharya Plots for Data from Unselected Patients

N. Abeling, E. Slaats, W. de Kieviet, 1986, Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie.

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

P. Vreken, R. Hennekam, N. Abeling, 2002 .

Vitamin C Treatment in Menkes’ Disease: Failure to Affect Biochemical and Clinical Parameters

P. Barth, N. Abeling, F. Wijburg, 1989, Journal of Inherited Metabolic Disease.

Clinical and Electroencephalographic Effects of Folinic Acid Treatment in Rett Syndrome Patients

M. Durán, B. Poll-The, N. Abeling, 2011, Journal of child neurology.

Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD : a new inborn error of metabolism with potential treatment

H. Waterham, L. Ijlst, N. Abeling, 2017 .

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-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.

N. Chamoles, J. Abdenur, A. Schenone, 2006, Molecular genetics and metabolism.