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2020 2
2022 2
2023 4
2024 0

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Page 1
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. Among authors: maase r. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.
Dijkstra AM, de Blaauw P, van Rijt WJ, Renting H, Maatman RGHJ, van Spronsen FJ, Maase RE, Schielen PCJI, Derks TGJ, Heiner-Fokkema MR. Dijkstra AM, et al. Among authors: maase re. Int J Neonatal Screen. 2023 Jun 21;9(3):34. doi: 10.3390/ijns9030034. Int J Neonatal Screen. 2023. PMID: 37489487 Free PMC article.
Neonatal carnitine concentrations in relation to gestational age and weight.
Crefcoeur LL, de Sain-van der Velden MGM, Ferdinandusse S, Langeveld M, Maase R, Vaz FM, Visser G, Wanders RJA, Wijburg FA, Verschoof-Puite RK, Schielen PCJI. Crefcoeur LL, et al. Among authors: maase r. JIMD Rep. 2020 Sep 8;56(1):95-104. doi: 10.1002/jmd2.12162. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204600 Free PMC article.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G. Schwantje M, et al. Among authors: maase r. J Inherit Metab Dis. 2022 Jul;45(4):804-818. doi: 10.1002/jimd.12502. Epub 2022 Apr 19. J Inherit Metab Dis. 2022. PMID: 35383965 Free PMC article.
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Stroek K, Boelen A, Bouva MJ, De Sain-van der Velden M, Schielen PCJI, Maase R, Engel H, Jakobs B, Kluijtmans LAJ, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, Visser G, de Vries MC, Williams M, Heijboer AC, Kemper EA, Bosch AM. Stroek K, et al. Among authors: maase r. JIMD Rep. 2020 May 13;54(1):68-78. doi: 10.1002/jmd2.12124. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685353 Free PMC article.