Bierau J - Search Results

1

Potential added value of combined DPYD/DPD genotyping and phenotyping to prevent severe toxicity in patients with a DPYD variant and decreased dihydropyrimidine dehydrogenase enzyme activity.

Ockeloen CW, Raaijmakers A, Hijmans-van der Vegt M, Bierau J, de Vos-Geelen J, Willemsen AE, van den Bosch BJ, Coenen MJ. Ockeloen CW, et al. Among authors: bierau j. J Oncol Pharm Pract. 2023 Jan;29(1):5-13. doi: 10.1177/10781552211049144. Epub 2021 Nov 19. J Oncol Pharm Pract. 2023. PMID: 34797200 Free PMC article.

2

The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. Blok MJ, et al. Among authors: bierau j. J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578034

3

Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy.

Peltenburg NC, Leers MP, Bakker JA, Lowe SH, Vroemen WH, Paulussen AD, van den Bosch BJ, Bierau J, Verbon A. Peltenburg NC, et al. Among authors: bierau j. J Acquir Immune Defic Syndr. 2016 Dec 1;73(4):390-395. doi: 10.1097/QAI.0000000000001130. J Acquir Immune Defic Syndr. 2016. PMID: 27792682

4

Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV.

Peltenburg NC, Bierau J, Bakker JA, Schippers JA, Lowe SH, Paulussen ADC, van den Bosch BJC, Leers MPG, Hansen BE, Verbon A. Peltenburg NC, et al. Among authors: bierau j. PLoS One. 2018 Jan 12;13(1):e0191069. doi: 10.1371/journal.pone.0191069. eCollection 2018. PLoS One. 2018. PMID: 29329318 Free PMC article.

5

Metabolic events in HIV-infected patients using abacavir are associated with erythrocyte inosine triphosphatase activity.

Peltenburg NC, Bierau J, Schippers JA, Lowe SH, Paulussen ADC, van den Bosch BJC, Leers MPG, Andrinopoulou ER, Bakker JA, Verbon A. Peltenburg NC, et al. Among authors: bierau j. J Antimicrob Chemother. 2019 Jan 1;74(1):157-164. doi: 10.1093/jac/dky383. J Antimicrob Chemother. 2019. PMID: 30304447

6

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.

Coenen MJH, Paulussen ADC, Breuer M, Lindhout M, Tserpelis DCJ, Steyls A, Bierau J, van den Bosch BJC. Coenen MJH, et al. Among authors: bierau j. Curr Ther Res Clin Exp. 2018 Oct 31;90:1-7. doi: 10.1016/j.curtheres.2018.10.001. eCollection 2019. Curr Ther Res Clin Exp. 2018. PMID: 30510603 Free PMC article.

7

Dosage of 6-Mercaptopurine in Relation to Genetic TPMT and ITPA Variants: Toward Individualized Pediatric Acute Lymphoblastic Leukemia Maintenance Treatment.

Kouwenberg TW, van den Bosch BJC, Bierau J, Te Loo DMWM, Coenen MJH, Hagleitner MM. Kouwenberg TW, et al. Among authors: bierau j. J Pediatr Hematol Oncol. 2020 Mar;42(2):e94-e97. doi: 10.1097/MPH.0000000000001707. J Pediatr Hematol Oncol. 2020. PMID: 31895215

8

Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC. van Kuilenburg AB, et al. Among authors: bierau j. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544545

9

Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity.

Frisk JH, Vanoevelen JM, Bierau J, Pejler G, Eriksson S, Wang L. Frisk JH, et al. Among authors: bierau j. ACS Omega. 2021 Dec 6;6(49):33943-33952. doi: 10.1021/acsomega.1c05288. eCollection 2021 Dec 14. ACS Omega. 2021. PMID: 34926941 Free PMC article.

10

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM. Hellebrekers DMEI, et al. Among authors: bierau j. Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26. Eur J Hum Genet. 2017. PMID: 28443623 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

86 results

Search Page