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Page 1
Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency.
Garrelfs MR, Rinne T, Hillebrand JJ, Lauffer P, Bijlsma MW, Claahsen-van der Grinten HL, de Leeuw N, Finken MJJ, Rotteveel J, Zwaveling-Soonawala N, Nieuwdorp M, van Trotsenburg ASP, Mooij CF. Garrelfs MR, et al. J Clin Res Pediatr Endocrinol. 2024 Mar 11;16(1):95-101. doi: 10.4274/jcrpe.galenos.2022.2022-3-4. Epub 2022 Jul 18. J Clin Res Pediatr Endocrinol. 2024. PMID: 35848593 Free PMC article.
Eculizumab in Pediatric Dense Deposit Disease.
Oosterveld MJ, Garrelfs MR, Hoppe B, Florquin S, Roelofs JJ, van den Heuvel LP, Amann K, Davin JC, Bouts AH, Schriemer PJ, Groothoff JW. Oosterveld MJ, et al. Among authors: garrelfs mr. Clin J Am Soc Nephrol. 2015 Oct 7;10(10):1773-82. doi: 10.2215/CJN.01360215. Epub 2015 Aug 27. Clin J Am Soc Nephrol. 2015. PMID: 26316621 Free PMC article.
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA. Garrelfs MR, et al. Pediatr Neurol. 2020 Dec;113:26-32. doi: 10.1016/j.pediatrneurol.2020.07.014. Epub 2020 Jul 28. Pediatr Neurol. 2020. PMID: 32980744 Free article.
[Primary amenorrhoea and macrocephaly].
Garrelfs MR, Vandertop WP, van Santen HM. Garrelfs MR, et al. Ned Tijdschr Geneeskd. 2014;158:A7125. Ned Tijdschr Geneeskd. 2014. PMID: 25004780 Dutch.
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, van Karnebeek CDM. Veenvliet ARJ, et al. Among authors: garrelfs mr. Mol Genet Metab Rep. 2022 May 4;31:100873. doi: 10.1016/j.ymgmr.2022.100873. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782614 Free PMC article.
[A girl with bilateral periorbital edema].
Garrelfs MR, Romeijn JR, Heynens JW. Garrelfs MR, et al. Ned Tijdschr Geneeskd. 2015;159:A9405. Ned Tijdschr Geneeskd. 2015. PMID: 26469734 Dutch.