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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Veldman A, Kiewiet MBG, Westra D, Bosch AM, Brands MMG, de Coo RIFM, Derks TGJ, Fuchs SA, van den Hout JMP, Huidekoper HH, Kluijtmans LAJ, Koop K, Lubout CMA, Mulder MF, Panis B, Rubio-Gozalbo ME, de Sain-van der Velden MG, Schaefers J, Schreuder AB, Visser G, Wevers RA, Wijburg FA, Heiner-Fokkema MR, van Spronsen FJ. Veldman A, et al. Among authors: visser g. Int J Neonatal Screen. 2023 Oct 11;9(4):56. doi: 10.3390/ijns9040056. Int J Neonatal Screen. 2023. PMID: 37873847 Free PMC article.
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ. Jager EA, et al. Among authors: visser g. J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16. J Inherit Metab Dis. 2019. PMID: 31012112
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: visser g. 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.
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: visser g. 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.
1,001 results