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Preventive use of nitisinone in alkaptonuria.
Wolffenbuttel BHR, Heiner-Fokkema MR, van Spronsen FJ. Wolffenbuttel BHR, et al. Orphanet J Rare Dis. 2021 Aug 3;16(1):343. doi: 10.1186/s13023-021-01977-0. Orphanet J Rare Dis. 2021. PMID: 34344451 Free PMC article.
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
Anjema K, Venema G, Hofstede FC, Carbasius Weber EC, Bosch AM, Ter Horst NM, Hollak CE, Jonkers CF, Rubio-Gozalbo ME, van der Ploeg EM, de Vries MC, Janssen-Regelink RG, Janssen MC, Zweers-van Essen H, Boelen CC, van der Herberg-van de Wetering NA, Heiner-Fokkema MR, van Rijn M, van Spronsen FJ. Anjema K, et al. Mol Genet Metab. 2011;104 Suppl:S60-3. doi: 10.1016/j.ymgme.2011.09.024. Epub 2011 Sep 23. Mol Genet Metab. 2011. PMID: 21996137
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.
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