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Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.
Kuypers AM, Vliet KE, MacDonald A, Ahring K, Abeln D, Ford S, Hildebrandt-Karlsen S, van Spronsen FJ, Heiner-Fokkema MR. Kuypers AM, et al. Among authors: heiner fokkema mr. Mol Genet Metab. 2024 May;142(1):108361. doi: 10.1016/j.ymgme.2024.108361. Epub 2024 Feb 29. Mol Genet Metab. 2024. PMID: 38442492 Free article.
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. Int J Neonatal Screen. 2023 Oct 11;9(4):56. doi: 10.3390/ijns9040056. Int J Neonatal Screen. 2023. PMID: 37873847 Free PMC article.
Urinary 3-hydroxyisovaleryl carnitine excretion, protein energy malnutrition and risk of all-cause mortality in kidney transplant recipients: Results from the TransplantLines cohort studies.
Post A, Said MY, Gomes-Neto AW, Minović I, Groothof D, Swarte JC, Boer T, Kema IP, Heiner-Fokkema MR, Franssen CFM, Bakker SJL. Post A, et al. Clin Nutr. 2021 Apr;40(4):2109-2120. doi: 10.1016/j.clnu.2020.09.035. Epub 2020 Oct 1. Clin Nutr. 2021. PMID: 33071013 Free article.
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Van Hove JLK, Vaz FM, Havinga R, Allersma DP, Zijp TR, Bedoyan JK, Heiner-Fokkema MR, Reijngoud DJ, Geraghty MT, Wanders RJA, Oosterveer MH, Derks TGJ. van Rijt WJ, et al. J Inherit Metab Dis. 2021 Jul;44(4):926-938. doi: 10.1002/jimd.12365. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33543789 Free PMC article.
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
Kienstra NS, van Reemst HE, van Ginkel WG, Daly A, van Dam E, MacDonald A, Burgerhof JGM, de Blaauw P, McKiernan PJ, Heiner-Fokkema MR, van Spronsen FJ. Kienstra NS, et al. J Inherit Metab Dis. 2018 Mar;41(2):181-186. doi: 10.1007/s10545-017-0112-9. Epub 2017 Nov 23. J Inherit Metab Dis. 2018. PMID: 29170874 Free PMC article.
89 results