N G G M Abeling

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Verbeek Marcel M; Willemsen Michel A A P; Wevers Ron A; Lagerwerf Aart J; Abeling Nico G G M; Blau Nenad; Thöny Beat; Vargiami Euthymia; Zafeiriou Dimitrios I
Two Greek siblings with sepiapterin reductase deficiency.
van Kuilenburg A B P; Meijer J; Dobritzsch D; Lohkamp B; Ruitenbeek W; Roelofsen J; Abeling N G G M; Duran M; Buzing C
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.
Boot Erik; Booij Jan; Zinkstok Janneke; Abeling Nico; de Haan Lieuwe; Baas Frank; Linszen Don; van Amelsvoort Thérèse
Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome.

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2008: Verbeek Marcel M; Willemsen Michel A A P; Wevers Ron A; Lagerwerf Aart J; Abeling Nico G G M; Blau Nenad; Thöny Beat; Vargiami Euthymia; Zafeiriou Dimitrios I
Two Greek siblings with sepiapterin reductase deficiency.
Molecular genetics and metabolism 2008;94(4):403-9.
2008: van Kuilenburg A B P; Meijer J; Dobritzsch D; Lohkamp B; Ruitenbeek W; Roelofsen J; Abeling N G G M; Duran M; Buzing C
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.
Nucleosides, nucleotides & nucleic acids 2008;27(6):809-15.
2008: Boot Erik; Booij Jan; Zinkstok Janneke; Abeling Nico; de Haan Lieuwe; Baas Frank; Linszen Don; van Amelsvoort Thérèse
Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2008;33(6):1252-8.
2007: Ng Bobby G; Kranz Christian; Hagebeuk E E O; Duran M; Abeling N G G M; Wuyts B; Ungar Daniel; Lupashin Vladimir; Hartdorff C M; Poll-The B T; Freeze Hudson H
Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
Molecular genetics and metabolism 2007;91(2):201-4.
2007: van Kuilenburg André B P; Meijer Judith; Dobritzsch Doreen; Meinsma Rutger; Duran Marinus; Lohkamp Bernhard; Zoetekouw Lida; Abeling Nico G G M; van Tinteren Herman L G; Bosch Annet M
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.
Molecular genetics and metabolism 2007;91(2):157-64.
2007: van der Ham Maria; Prinsen Berthil H C M T; Huijmans Jan G M; Abeling Nicolaas G G M; Dorland Bert; Berger Ruud; de Koning Tom J; de Sain-van der Velden Monique G M
Quantification of free and total sialic acid excretion by LC-MS/MS.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2007;848(2):251-7.
2006: Abeling Nico G; Duran Marinus; Bakker Henk D; Stroomer Lida; Thöny Beat; Blau Nenad; Booij Jan; Poll-The Bwee Tien
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
Molecular genetics and metabolism 2006;89(1-2):116-20.
2006: Bikker H; Bakker H D; Abeling N G G M; Poll-The B T; Kleijer W J; Rosenblatt D S; Waterham H R; Wanders R J A; Duran M
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
Human mutation 2006;27(7):640-3.
2006: Assmann Birgit E; Van Kuilenburg Andre B P; Distelmaier Felix; Abeling Nico G G M; Rosenbaum Thorsten; Schaper Jörg; Duran Marinus; Mayatepek Ertan
Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
Epilepsia 2006;47(1):215-7.
2006: van Kuilenburg A B P; van Maldegem B T; Abeling N G G M; Wijburg F A; Duran M
Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency.
Nucleosides, nucleotides & nucleic acids 2006;25(9-11):1251-5.
2006: van Kuilenburg A B P; Stroomer A E M; Abeling N G G M; van Gennip A H
A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency?
Nucleosides, nucleotides & nucleic acids 2006;25(9-11):1103-6.
2006: van Kuilenburg A B P; Meinsma R; Assman B; Hoffman G F; Voit T; Ribes A; Lorente I; Busch R; Mayatepek E; Abeling N G G M; Wevers R A; Rutsch F; van Gennip A H
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
Nucleosides, nucleotides & nucleic acids 2006;25(9-11):1093-8.
2005: van Karnebeek Clara D M; Scheper Frederike Y; Abeling Nico G; Alders Marielle; Barth Peter G; Hoovers Jan M N; Koevoets Cindy; Wanders Ronald J A; Hennekam Raoul C M
Etiology of mental retardation in children referred to a tertiary care center: a prospective study.
American journal of mental retardation : AJMR 2005;110(4):253-67.
2004: van Kuilenburg André B P; Meinsma Rutger; Beke Eva; Assmann Birgit; Ribes Antonia; Lorente Isabel; Busch Rebekka; Mayatepek Ertan; Abeling Nico G G M; van Cruchten Arno; Stroomer Alida E M; van Lenthe Henk; Zoetekouw Lida; Kulik Willem; Hoffmann Georg F; Voit Thomas; Wevers Ron A; Rutsch Frank; van Gennip Albert H
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
Human molecular genetics 2004;13(22):2793-801.
2004: Assies J; Lok A; Bockting C L; Weverling G J; Lieverse R; Visser I; Abeling N G G M; Duran M; Schene A H
Fatty acids and homocysteine levels in patients with recurrent depression: an explorative pilot study.
Prostaglandins, leukotrienes, and essential fatty acids 2004;70(4):349-56.
2004: Van Kuilenburg André B P; Stroomer Alida E M; Van Lenthe Henk; Abeling Nico G G M; Van Gennip Albert H
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
The Biochemical journal 2004;379(Pt 1):119-24.
2004: Valianpour Fredoen; Abeling Nicolaas G G M; Duran Marinus; Huijmans Jan G M; Kulik Willem
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.
Clinical chemistry 2004;50(2):403-9.
2002: van Karnebeek C D M; van Gelderen I; Nijhof G J; Abeling N G; Vreken P; Redeker E J; van Eeghen A M; Hoovers J M N; Hennekam R C M
An aetiological study of 25 mentally retarded adults with autism.
Journal of medical genetics 2002;39(3):205-13.
2002: Yilmazer Tuncay; van Gennip Albert H; Abeling Nico G G M; Ozalp Imran; Coskun Turgay; Bakker Henk D
Phenylketonuria and glycogen storage disease type III in sibs of one family.
The Turkish journal of pediatrics 2002;44(1):49-53.
2001: Moolenaar S H; Engelke U F; Abeling N G; Mandel H; Duran M; Wevers R A
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine.
Journal of inherited metabolic disease 2001;24(8):843-50.
2001: Stamps V R; Abeling N G; van Gennip A H; van Cruchten A G; Gurling H M
Mild learning difficulties and offending behaviour--is there a link with monoamine oxidase A deficiency?
Psychiatric genetics 2001;11(3):173-6.
2001: Bakker H D; de Sonnaville M L; Vreken P; Abeling N G; Groener J E; Keulemans J L; van Diggelen O P
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
European journal of human genetics : EJHG 2001;9(2):91-6.
2000: Mandel H; Abeling N; Gutman A; Berant M; Scholten E G; Sheiman C; Luder A; van Gennip A H
Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis.
Prenatal diagnosis 2000;20(11):927-9.
2000: Abeling N G; Bräutigam C; Hoffmann G F; Barth P G; Wevers R A; Jaeken J; Fiumara A; Knust A; van Gennip A H
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.
Journal of inherited metabolic disease 2000;23(4):325-8.
1999: Abeling N G; van Gennip A H; Blom H; Wevers R A; Vreken P; van Tinteren H L; Bakker H D
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.
Journal of inherited metabolic disease 1999;22(3):240-2.
1999: Van Kuilenburg A B; Vreken P; Riva D; Botteon G; Abeling N G; Bakker H D; Van Gennip A H
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.
Journal of inherited metabolic disease 1999;22(2):191-2.
1999: Van Kuilenburg A B; Vreken P; Abeling N G; Bakker H D; Meinsma R; Van Lenthe H; De Abreu R A; Smeitink J A; Kayserili H; Apak M Y; Christensen E; Holopainen I; Pulkki K; Riva D; Botteon G; Holme E; Tulinius M; Kleijer W J; Beemer F A; Duran M; Niezen-Koning K E; Smit G P; Jakobs C; Smit L M; Van Gennip A H
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Human genetics 1999;104(1):1-9.
1998: Bosch A M; Sillevis Smitt J H; Van Gennip A H; Abeling N G; Schutgens R B; Bakker H D; Wijburg F A
Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome.
The British journal of dermatology 1998;139(3):488-91.
1998: Shalata A; Mandel H; Reiss J; Szargel R; Cohen-Akenine A; Dorche C; Zabot M T; Van Gennip A; Abeling N; Berant M; Cohen N
Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.
American journal of human genetics 1998;63(1):148-54.
1998: Barth P G; Wanders R J; Scholte H R; Abeling N; Jakobs C; Schutgens R B; Vreken P
L-2-hydroxyglutaric aciduria and lactic acidosis.
Journal of inherited metabolic disease 1998;21(3):251-4.
1998: Abeling N G; van Gennip A H; Barth P G; van Cruchten A; Westra M; Wijburg F A
Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.
Journal of inherited metabolic disease 1998;21(3):240-2.
1998: Abeling N G; van Gennip A H; van Cruchten A G; Overmars H; Brunner H G
Monoamine oxidase A deficiency: biogenic amine metabolites in random urine samples.
Journal of neural transmission. Supplementum 1998;52():9-15.
1997: van Gennip A H; van Lenthe H; Abeling N G; Scholten E G; van Kuilenburg A B
Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia.
Journal of inherited metabolic disease 1997;20(3):379-82.
1997: Wevers R A; Engelke U; Rotteveel J J; Heerschap A; De Jong J G; Abeling N G; van Gennip A H; de Abreu R A
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.
Journal of inherited metabolic disease 1997;20(3):345-50.
1997: van Gennip A H; Abeling N G; Vreken P; van Kuilenburg A B
Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.
Journal of inherited metabolic disease 1997;20(2):203-13.
1995: van Gennip A H; van Lenthe H; Abeling N G; Bakker H D; van Kuilenburg A B
Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.
Journal of inherited metabolic disease 1995;18(2):185-8.
1995: Abeling N G; van Gennip A H; Bakker H D; Heerschap A; Engelke U; Wevers R A
Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine.
Journal of inherited metabolic disease 1995;18(2):182-4.
1994: Bakker H D; Westra M; Overweg-Plandsoen W C; van Waveren G; Sillevis Smitt J H; Abeling N G; Wanders R J; Schutgens R B; van Gennip A H
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.
European journal of pediatrics 1994;153(11):861-2.
1994: van Gennip A H; Abeling N G; Stroomer A E; Overmars H; Bakker H D
The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.
Journal of inherited metabolic disease 1994;17(1):142-5.
1994: van Gennip A H; Abeling N G; Stroomer A E; van Lenthe H; Bakker H D
Clinical and biochemical findings in six patients with pyrimidine degradation defects.
Journal of inherited metabolic disease 1994;17(1):130-2.
1994: Bakker H D; Scholte H R; Jeneson J A; Busch H F; Abeling N G; van Gennip A H
Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis.
Journal of inherited metabolic disease 1994;17(2):196-204.
1994: van Gennip A H; Abeling N G; Nijenhuis A A; Voûte P A; Bakker H D
Formiminoglutamic/hydantoinpropionic aciduria in three patients with different tumours.
Journal of inherited metabolic disease 1994;17(5):642-3.
1994: Abeling N G; van Gennip A H; Overmars H; van Oost B A; Brunner H G
Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis.
Journal of inherited metabolic disease 1994;17(3):339-41.
1993: Slot H M; Overweg-Plandsoen W C; Bakker H D; Abeling N G; Tamminga P; Barth P G; Van Gennip A H
Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.
Neuropediatrics 1993;24(3):139-42.
1993: Bakker H D; Scholte H R; Van den Bogert C; Ruitenbeek W; Jeneson J A; Wanders R J; Abeling N G; Dorland B; Sengers R C; Van Gennip A H
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.
Pediatric research 1993;33(4 Pt 1):412-7.
1993: van Gennip A H; Busch S; Elzinga L; Stroomer A E; van Cruchten A; Scholten E G; Abeling N G
Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.
Clinical chemistry 1993;39(3):380-5.
1993: Bakker H D; Abeling N G; ten Houten R; van den Blij J F; Overweg-Plandsoen W C; Wanders R J; van Gennip A H
Molybdenum cofactor deficiency can mimic postanoxic encephalopathy.
Journal of inherited metabolic disease 1993;16(5):900-1.
1993: Bakker H D; Wanders R J; Schutgens R B; Abeling N G; van Gennip A H
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.
Journal of inherited metabolic disease 1993;16(6):1061-2.
1993: Bakker H D; Scholte H R; Van den Bogert C; Jeneson J A; Ruitenbeek W; Wanders R J; Abeling N G; van Gennip A H
Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E.
Journal of inherited metabolic disease 1993;16(3):548-52.
1992: Caron H N; Abeling N; van Gennip A; de Kraker J; Voûte P A
Hyperaminoaciduria identifies patients at risk of developing renal tubular toxicity associated with ifosfamide and platinate containing regimens.
Medical and pediatric oncology 1992;20(1):42-7.
1991: Bakker H D; Scholte H R; Luyt-Houwen I E; van Gennip A H; Abeling N G; Lam J
Neonatal cardiomyopathy and lactic acidosis responsive to thiamine.
Journal of inherited metabolic disease 1991;14(1):75-9.
1991: van Gennip A H; Busch S; Scholten E G; Stroomer L E; Abeling N G
Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine.
Advances in experimental medicine and biology 1991;309B():15-9.
1991: Bakker H D; Abeling N G; van Schooneveld M J; Wanders R J; van Gennip A H
A far advanced case of gyrate atrophy in a 12-year-old girl.
Journal of inherited metabolic disease 1991;14(3):379-81.
1990: Stroomer A E; Overmars H; Abeling N G; van Gennip A H
Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography.
Clinical chemistry 1990;36(10):1834-7.
1989: van Gennip A H; Abeling N G; Elzinga-Zoetekouw L; Scholten L G; van Cruchten A; Bakker H D
Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency.
Advances in experimental medicine and biology 1989;253A():111-8.
1989: de Groot C J; Wijburg F A; Barth P G; Bolhuis P A; Peelen W; Abeling N G; van den Hamer C J
Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters.
Journal of inherited metabolic disease 1989;12 Suppl 2():389-92.
1986: Abeling N G; van Gennip A H; Overmars H; Voûte P A
Biochemical monitoring of children with neuroblastoma.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 1986;7(1):27-35.
1985: Bakker H D; Abeling N G; Rammeloo J A; Jansen H; van Gennip A H
[Lipoprotein lipase deficiency in 2 young patients (hyperlipoproteinemia type I)]
Nederlands tijdschrift voor geneeskunde 1985;129(14):642-5.
1984: Abeling N G; van Gennip A H; Overmars H; Voûte P A
Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection.
Clinica chimica acta; international journal of clinical chemistry 1984;137(2):211-26.

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N G G M Abeling

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