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Yield of additional metabolic studies in neurodevelopmental disorders.
Engbers HM, Berger R, van Hasselt P, de Koning T, de Sain-van der Velden MG, Kroes HY, Visser G. Engbers HM, et al. Among authors: van Hasselt P. Ann Neurol. 2008 Aug;64(2):212-7. doi: 10.1002/ana.21435. Ann Neurol. 2008. PMID: 18570304
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Guo H, et al. Among authors: van Hasselt PM, van Gassen K. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31579823 Free PMC article.
Exercise stress testing in children with metabolic or neuromuscular disorders.
Takken T, Groen WG, Hulzebos EH, Ernsting CG, van Hasselt PM, Prinsen BH, Helders PJ, Visser G. Takken T, et al. Among authors: van Hasselt PM. Int J Pediatr. 2010;2010:254829. doi: 10.1155/2010/254829. Epub 2010 Jul 15. Int J Pediatr. 2010. PMID: 20706686 Free PMC article.
Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.
Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G. Vellekoop P, et al. Among authors: van Tuijl I, van Hasselt PM. Mol Genet Metab. 2011 May;103(1):96-7. doi: 10.1016/j.ymgme.2011.01.010. Epub 2011 Jan 27. Mol Genet Metab. 2011. PMID: 21333574
Metabolic profiles in children during fasting.
van Veen MR, van Hasselt PM, de Sain-van der Velden MG, Verhoeven N, Hofstede FC, de Koning TJ, Visser G. van Veen MR, et al. Among authors: van Hasselt PM. Pediatrics. 2011 Apr;127(4):e1021-7. doi: 10.1542/peds.2010-1706. Epub 2011 Mar 21. Pediatrics. 2011. PMID: 21422093
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.
de Sain-van der Velden MG, Rinaldo P, Elvers B, Henderson M, Walter JH, Prinsen BH, Verhoeven-Duif NM, de Koning TJ, van Hasselt P. de Sain-van der Velden MG, et al. Among authors: van Hasselt P. JIMD Rep. 2012;6:95-9. doi: 10.1007/8904_2011_122. Epub 2012 Feb 24. JIMD Rep. 2012. PMID: 23430945 Free PMC article.
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
Diekman EF, de Koning TJ, Verhoeven-Duif NM, Rovers MM, van Hasselt PM. Diekman EF, et al. Among authors: van Hasselt PM. JAMA Neurol. 2014 Feb;71(2):188-94. doi: 10.1001/jamaneurol.2013.4915. JAMA Neurol. 2014. PMID: 24323041 Review.
Subgroup analysis of patients with deceased siblings-their genotypically identical controls-revealed that betaine treatment prevented mortality (P = .002). In addition, psychomotor development in surviving patients treated with betaine was normal in all 5 early-treated patients but in none of the 19 surviving patients with delayed treatment (P < .001). ...
Subgroup analysis of patients with deceased siblings-their genotypically identical controls-revealed that betaine treatment prevented mortal …
Expanding the clinical phenotype of COG6 deficiency.
Haijes H, Prinsen HC, Thiel C, Koerner C, Verhoeven-Duif NM, van Hasselt PM. Haijes H, et al. Among authors: van Hasselt PM. J Med Genet. 2014 Jun;51(6):425. doi: 10.1136/jmedgenet-2014-102329. Epub 2014 Mar 25. J Med Genet. 2014. PMID: 24667119 No abstract available.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: van Hasselt PM. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805
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