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J. Bierau · SciRah

Researcher profile · Semantic Scholar

J. Bierau

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J. Bierau — researcher profile on SciRah

h-index: 26
Works: 100
Citations: 3,322

Most-cited papers

Protein content and amino acid composition of commercially available plant-based protein isolates
S. Gorissen, Julie J. R. Crombag, J. Senden, W. A. Huub Waterval +3 more
2018Amino Acids990 citations Open access
Semantic Scholar
Ingestion of Wheat Protein Increases In Vivo Muscle Protein Synthesis Rates in Healthy Older Men in a Randomized Trial.
S. Gorissen, A. Horstman, Rinske Franssen, Julie J. R. Crombag +4 more
2016Journal of NutriLife196 citations Open access
Semantic Scholar
Quantitative UPLC-MS/MS analysis of underivatised amino acids in body fluids is a reliable tool for the diagnosis and follow-up of patients with inborn errors of metabolism.
W. A. Huub Waterval, J. Scheijen, Marjon M. J. C. Ortmans-Ploemen, Catharina D. Habets-van der Poel +1 more
2009Clinica chimica acta; international journal of clinical chemistry171 citations
Semantic Scholar
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias
J. Verdonschot, M. Hazebroek, K. Derks, Arantxa Barandiarán Aizpurua +13 more
2018European Heart Journal165 citations Open access
Semantic Scholar
Post-Prandial Protein Handling: You Are What You Just Ate
B. Groen, A. Horstman, H. Hamer, M. D. de Haan +6 more
2015PLoS ONE136 citations Open access
Semantic Scholar
CAD mutations and uridine-responsive epileptic encephalopathy
J. Koch, J. Mayr, B. Alhaddad, C. Rauscher +17 more
2017Brain : a journal of neurology113 citations Open access
Semantic Scholar
Pharmacogenetic significance of inosine triphosphatase.
J. Bierau, M. Lindhout, J. Bakker
2007Pharmacogenomics (London)100 citations
Semantic Scholar
Therapeutic drug monitoring of thiopurine metabolites in adult thiopurine tolerant IBD patients on maintenance therapy.
L. Gilissen, D. Wong, L. Engels, J. Bierau +10 more
2012Journal of Crohn's & Colitis76 citations Open access
Semantic Scholar
Persistent metabolic changes in HIV-infected patients during the first year of combination antiretroviral therapy
N. Chantal Peltenburg, J. Schoeman, Jun-Liang Hou, F. Mora +7 more
2018Scientific Reports65 citations Open access
Semantic Scholar
The pharmacokinetic effect of discontinuation of mesalazine on mercaptopurine metabolite levels in inflammatory bowel disease patients
L. Gilissen, J. Bierau, L. Derijks, L. Bos +4 more
2005Alimentary Pharmacology and Therapeutics65 citations Open access
Semantic Scholar
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)
A. V. van Kuilenburg, J. Meijer, A. Mul, R. Hennekam +16 more
2009Human Genetics58 citations Open access
Semantic Scholar
Recessive ITPA mutations cause an early infantile encephalopathy
Sietske H. G. Kevelam, J. Bierau, R. Salvarinova, S. Agrawal +7 more
2015Annals of Neurology53 citations Open access
Semantic Scholar
Both basal and post-prandial muscle protein synthesis rates, following the ingestion of a leucine-enriched whey protein supplement, are not impaired in sarcopenic older males.
I. Kramer, L. Verdijk, H. Hamer, S. Verlaan +8 more
2017Clinical Nutrition51 citations
Semantic Scholar
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
D. Hellebrekers, S. Sallevelt, T. Theunissen, A. Hendrickx +6 more
2017European Journal of Human Genetics44 citations Open access
Semantic Scholar
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer
Giada Zurlo, Xi-Juan Liu, M. Takada, Cheng Fan +17 more
2019Nature Communications42 citations Open access
Semantic Scholar
Defective postreperfusion metabolic recovery directly associates with incident delayed graft function.
L. G. Wijermars, A. Schaapherder, Dorottya K. de Vries, L. Verschuren +9 more
2016Kidney International41 citations Open access
Semantic Scholar
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy
Moniek Riemersma, M. Hazebroek, Appolonia T. J. M. Helderman-van den Enden, G. Salomons +9 more
2017European Journal of Human Genetics38 citations Open access
Semantic Scholar
Results of an explorative clinical evaluation suggest immediate and persistent post-reperfusion metabolic paralysis drives kidney ischemia reperfusion injury.
J. Lindeman, L. G. Wijermars, S. Kostidis, O. Mayboroda +10 more
2020Kidney International37 citations Open access
Semantic Scholar
Metabolic Profiling Associates with Disease Severity in Non-Ischemic Dilated Cardiomyopathy.
J. Verdonschot, Ping Wang, M. van Bilsen, M. Hazebroek +9 more
2020Journal of Cardiac Failure33 citations Open access
Semantic Scholar
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
D. Rymen, M. Lindhout, M. Spanou, F. Ashrafzadeh +19 more
2020Genetics in Medicine32 citations Open access
Semantic Scholar
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
P. Monostori, Glynis Klinke, J. Hauke, Sylvia Richter +6 more
2019PLoS ONE32 citations Open access
Semantic Scholar
Nutrients required for phospholipid synthesis are lower in blood and cerebrospinal fluid in mild cognitive impairment and Alzheimer's disease dementia
N. van Wijk, R. E. Slot, F. Duits, M. Strik +7 more
2017Alzheimer's & Dementia32 citations Open access
Semantic Scholar
The effect of prolonged dietary nitrate supplementation on atherosclerosis development.
E. Marsch, T. Theelen, B. Janssen, J. Briedé +8 more
2016Atherosclerosis29 citations Open access
Semantic Scholar
Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion
Cynthia S. Gubbels, J. Land, Johannes L. H. Evers, J. Bierau +3 more
2012Journal of Inherited Metabolic Disease27 citations Open access
Semantic Scholar
Pancytopenia due to high 6-methylmercaptopurine levels in a 6-mercaptopurine treated patient with Crohn's disease.
L. Gilissen, L. Derijks, H. M. J. H. Verhoeven, J. Bierau +3 more
2007Digestive and Liver Disease27 citations
Semantic Scholar
Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma
J. Bierau, A. V. van Gennip, R. Leen, R. Meinsma +2 more
2005Cancer Chemotherapy and Pharmacology26 citations
Semantic Scholar
Increasing Insulin Availability Does Not Augment Postprandial Muscle Protein Synthesis Rates in Healthy Young and Older Men.
B. Groen, A. Horstman, H. Hamer, M. D. de Haan +6 more
2016Journal of Clinical Endocrinology and Metabolism24 citations Open access
Semantic Scholar
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
K. van Vliet, Willem G. van Ginkel, R. Jahja, A. Daly +18 more
2019Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Impaired fertility and motor function in a zebrafish model for classic galactosemia
J. Vanoevelen, Britt van Erven, J. Bierau, Xiao-Ping Huang +4 more
2017Journal of Inherited Metabolic Disease22 citations Open access
Semantic Scholar
Reduced renal plasma clearance does not explain increased plasma asymmetric dimethylarginine in hypertensive subjects with mild to moderate renal insufficiency.
Rianne A. Ronden, A. J. Houben, T. Teerlink, J. Bakker +4 more
2012AJP - Renal Physiology22 citations
Semantic Scholar
Cyclopentenyl cytosine primes SK‐N‐BE(2)c neuroblastoma cells for cytarabine toxicity
J. Bierau, A. V. van Gennip, R. Leen, J. Helleman +2 more
2003International Journal of Cancer22 citations Open access
Semantic Scholar
Serotonergic, noradrenergic and dopaminergic markers are related to cognitive function in adults with 22q11 deletion syndrome.
L. Evers, L. Curfs, J. Bakker, E. Boot +5 more
2014International Journal of Neuropsychopharmacology21 citations Open access
Semantic Scholar
Determination of ITPase Activity in Erythrocyte Lysates Obtained for Determination of Tpmt Activity
J. Bierau, Jaap A. Bakker, M. Lindhout, A. V. van Gennip
2006Nucleosides, Nucleotides & Nucleic Acids21 citations
Semantic Scholar
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
M. Scala, Saskia B. Wortmann, N. Kaya, M. Stellingwerff +71 more
2022Human Mutation20 citations Open access
Semantic Scholar
Specific Nutritional Biomarker Profiles in Mild Cognitive Impairment and Subjective Cognitive Decline Are Associated With Clinical Progression: The NUDAD Project.
F. A. de Leeuw, W. M. van der Flier, Betty M. Tijms, P. Scheltens +8 more
2020Journal of the American Medical Directors Association20 citations Open access
Semantic Scholar
Relevance of pharmacogenetic aspects of mercaptopurine metabolism in the treatment of interstitial lung disease
J. Bakker, M. Drent, J. Bierau
2007Current opinion in pulmonary medicine20 citations
Semantic Scholar
Body Position Modulates Gastric Emptying and Affects the Post-Prandial Rise in Plasma Amino Acid Concentrations Following Protein Ingestion in Humans
A. Holwerda, K. Lenaerts, J. Bierau, L. V. van Loon
2016Nutrients19 citations Open access
Semantic Scholar
Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography.
M. Lindhout, M. E. Rubio-Gozalbo, J. Bakker, J. Bierau
2010Clinica chimica acta; international journal of clinical chemistry19 citations
Semantic Scholar
DTYMK is essential for genome integrity and neuronal survival
J. Vanoevelen, J. Bierau, Janine A. C. Grashorn, E. Lambrichs +16 more
2021Acta Neuropathologica18 citations Open access
Semantic Scholar
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
L. Steinbusch, Ping Wang, Huub W. A. H. Waterval, Fons Apm Stassen +5 more
2021Journal of Inherited Metabolic Disease18 citations Open access
Semantic Scholar
Metabolic inactivation of five glycidyl ethers in lung and liver of humans, rats and mice in vitro
Peter J. Boogaard, K. D. de Kloe, J. Bierau, G. Kuiken +2 more
2000Xenobiotica; the fate of foreign compounds in biological systems18 citations
Semantic Scholar
Associations of plasma uric acid and purine metabolites with blood pressure in children: the KOALA Birth Cohort Study
L. Scheepers, A. Boonen, W. Pijnenburg, J. Bierau +4 more
2017Journal of Hypertension17 citations Open access
Semantic Scholar
LDL cholesterol and uridine levels in blood are potential nutritional biomarkers for clinical progression in Alzheimer's disease: The NUDAD project
F. A. de Leeuw, B. Tijms, A. Doorduijn, Heleen M. A. Hendriksen +11 more
2020Alzheimer's & Dementia16 citations Open access
Semantic Scholar
Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time
M. Coenen, A. Paulussen, M. Breuer, M. Lindhout +4 more
2018Current Therapeutic Research16 citations Open access
Semantic Scholar
The Effect of ITPA Polymorphisms on the Enzyme Kinetic Properties of Human Erythrocyte Inosine Triphosphatase Toward its Substrates ITP and 6-Thio-ITP
J. Bakker, M. Lindhout, D. Habets, A. van den Wijngaard +2 more
2011Nucleosides, Nucleotides & Nucleic Acids16 citations
Semantic Scholar
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
J. Bakker, P. Schlesser, H. Smeets, B. François +1 more
2010Journal of Inherited Metabolic Disease16 citations Open access
Semantic Scholar
Kidney and vascular function in adult patients with hereditary fructose intolerance
N. Simons, F. Debray, N. Schaper, E. Feskens +8 more
2020Molecular Genetics and Metabolism Reports15 citations Open access
Semantic Scholar
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
K. van Vliet, Willem G. van Ginkel, R. Jahja, A. Daly +31 more
2022Journal of Inherited Metabolic Disease14 citations Open access
Semantic Scholar
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish
M. Haskovic, A. I. Coelho, M. Lindhout, Fokje S. M. Zijlstra +6 more
2020Journal of Inherited Metabolic Disease13 citations Open access
Semantic Scholar
Therapeutic regimens in interstitial lung disease guided by genetic screening: fact or fiction?
J. Bakker, J. Bierau, M. Drent
2007European Respiratory Journal13 citations Open access
Semantic Scholar

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