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Year Number of Results
2015 1
2016 1
2017 1
2018 1
2019 8
2020 4
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Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.
Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM. Haijes HA, et al. J Inherit Metab Dis. 2019 Sep;42(5):730-744. doi: 10.1002/jimd.12129. Epub 2019 Aug 7. J Inherit Metab Dis. 2019. PMID: 31119747 Review.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.
Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Haijes HA, et al. J Inherit Metab Dis. 2019 Sep;42(5):745-761. doi: 10.1002/jimd.12128. Epub 2019 Jul 9. J Inherit Metab Dis. 2019. PMID: 31119742 Review.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.
Haijes HA, Jaeken J, Foulquier F, van Hasselt PM. Haijes HA, et al. J Med Genet. 2018 Feb;55(2):137-142. doi: 10.1136/jmedgenet-2017-104586. Epub 2017 Aug 28. J Med Genet. 2018. PMID: 28848061
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Metabolites. 2019 Jan 11;9(1):12. doi: 10.3390/metabo9010012. Metabolites. 2019. PMID: 30641898 Free PMC article.
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM. Haijes HA, et al. J Inherit Metab Dis. 2020 May;43(3):424-437. doi: 10.1002/jimd.12193. Epub 2019 Dec 22. J Inherit Metab Dis. 2020. PMID: 31828787 Free PMC article.
Participatory methods in pediatric participatory research: a systematic review.
Haijes HA, van Thiel GJ. Haijes HA, et al. Pediatr Res. 2016 May;79(5):676-83. doi: 10.1038/pr.2015.279. Epub 2015 Dec 31. Pediatr Res. 2016. PMID: 26720607 Review.
Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics.
Haijes HA, Willemse EAJ, Gerrits J, van der Flier WM, Teunissen CE, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Metabolites. 2019 Oct 18;9(10):236. doi: 10.3390/metabo9100236. Metabolites. 2019. PMID: 31635433 Free PMC article.
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.
Haijes HA, van der Ham M, Gerrits J, van Hasselt PM, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Mol Genet Metab. 2019 May;127(1):51-57. doi: 10.1016/j.ymgme.2019.03.005. Epub 2019 Mar 15. Mol Genet Metab. 2019. PMID: 30926434 Free article.
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