Heiner-Fokkema MR - Search Results

1

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.

2

Single amino acid supplementation in aminoacidopathies: a systematic review.

van Vliet D, Derks TG, van Rijn M, de Groot MJ, MacDonald A, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7. Orphanet J Rare Dis. 2014. PMID: 24422943 Free PMC article. Review.

3

Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.

Van Rijt WJ, Heiner-Fokkema MR, du Marchie Sarvaas GJ, Waterham HR, Blokpoel RG, van Spronsen FJ, Derks TG. Van Rijt WJ, et al. Pediatrics. 2014 Oct;134(4):e1224-8. doi: 10.1542/peds.2013-4254. Epub 2014 Sep 22. Pediatrics. 2014. PMID: 25246622

4

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

van Vliet D, van Dam E, van Rijn M, Derks TG, Venema-Liefaard G, Hitzert MM, Lunsing RJ, Heiner-Fokkema MR, van Spronsen FJ. van Vliet D, et al. JIMD Rep. 2015;18:117-24. doi: 10.1007/8904_2014_358. Epub 2014 Sep 26. JIMD Rep. 2015. PMID: 25256450 Free PMC article.

5

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.

van Vliet D, Anjema K, Jahja R, de Groot MJ, Liemburg GB, Heiner-Fokkema MR, van der Zee EA, Derks TG, Kema IP, van Spronsen FJ. van Vliet D, et al. Mol Genet Metab. 2015 Jan;114(1):29-33. doi: 10.1016/j.ymgme.2014.11.009. Epub 2014 Nov 15. Mol Genet Metab. 2015. PMID: 25466353

6

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

Hoogeveen IJ, van der Ende RM, van Spronsen FJ, de Boer F, Heiner-Fokkema MR, Derks TG. Hoogeveen IJ, et al. JIMD Rep. 2016;28:41-47. doi: 10.1007/8904_2015_511. Epub 2015 Nov 3. JIMD Rep. 2016. PMID: 26526422 Free PMC article.

7

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

van Rijt WJ, Koolhaas GD, Bekhof J, Heiner Fokkema MR, de Koning TJ, Visser G, Schielen PC, van Spronsen FJ, Derks TG. van Rijt WJ, et al. Neonatology. 2016;109(4):297-302. doi: 10.1159/000443874. Epub 2016 Feb 24. Neonatology. 2016. PMID: 26907928 Free article. Review.

8

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

Heiner-Fokkema MR, Vaz FM, Maatman R, Kluijtmans LA, van Spronsen FJ, Reijngoud DJ. Heiner-Fokkema MR, et al. JIMD Rep. 2017;32:33-39. doi: 10.1007/8904_2016_564. Epub 2016 Jun 14. JIMD Rep. 2017. PMID: 27295194 Free PMC article.

9

Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available.

van Rijt WJ, Jager EA, van Spronsen FJ, de Koning T, Heiner-Fokkema MR, Derks TG. van Rijt WJ, et al. Genet Med. 2016 Dec;18(12):1322-1323. doi: 10.1038/gim.2016.149. Epub 2016 Sep 22. Genet Med. 2016. PMID: 27657689 Free article. No abstract available.

10

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.

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