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Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R. van Dijk MJ, et al. Among authors: jans jjm. Br J Haematol. 2023 Jan;200(2):249-255. doi: 10.1111/bjh.18485. Epub 2022 Sep 30. Br J Haematol. 2023. PMID: 36177683 Free PMC article. Review.
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study.
Edridge A, Namazzi R, Tebulo A, Mfizi A, Deijs M, Koekkoek S, de Wever B, van der Ende A, Umiwana J, de Jong MD, Jans J, Verhoeven-Duif N, Titulaer M, van Karnebeek C, Seydel K, Taylor T, Asiimwe-Kateera B, van der Hoek L, Kabayiza JC, Mallewa M, Idro R, Boele van Hensbroek M, van Woensel JBM. Edridge A, et al. J Pediatr. 2023 Jul;258:113360. doi: 10.1016/j.jpeds.2023.02.007. Epub 2023 Feb 23. J Pediatr. 2023. PMID: 36828342 Free article.
Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity.
van Dooijeweert B, Broeks MH, Verhoeven-Duif NM, van Solinge WW, van Beers EJ, Rab MAE, Nieuwenhuis EES, Jans JJM, Bartels M, van Wijk R. van Dooijeweert B, et al. Among authors: jans jjm. Hemasphere. 2021 Jun 12;5(7):e591. doi: 10.1097/HS9.0000000000000591. eCollection 2021 Jul. Hemasphere. 2021. PMID: 34131631 Free PMC article. No abstract available.
Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ. van Dijk MJ, et al. Among authors: jans jjm. Am J Hematol. 2022 Jul;97(7):E226-E229. doi: 10.1002/ajh.26554. Epub 2022 Apr 16. Am J Hematol. 2022. PMID: 35384026 Free article. Clinical Trial. No abstract available.
Differences between acylcarnitine profiles in plasma and bloodspots.
de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM. de Sain-van der Velden MG, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):116-21. doi: 10.1016/j.ymgme.2013.04.008. Epub 2013 Apr 13. Mol Genet Metab. 2013. PMID: 23639448
Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.
Albersen M, Bosma M, Luykx JJ, Jans JJ, Bakker SC, Strengman E, Borgdorff PJ, Keijzers PJ, van Dongen EP, Bruins P, de Sain-van der Velden MG, Visser G, Knoers NV, Ophoff RA, Verhoeven-Duif NM. Albersen M, et al. Am J Clin Nutr. 2014 Aug;100(2):587-92. doi: 10.3945/ajcn.113.082008. Epub 2014 May 7. Am J Clin Nutr. 2014. PMID: 24808484 Free article.
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