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The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.
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
A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.
van Rijn M, Jansma J, Brinksma A, Bakker HD, Boers GH, Carbasius-Weber E, Douwes AC, van den Herberg A, Ter Horst NM, de Klerk JB, de Koning TJ, van den Ploeg L, Rubio-Gozalbo ME, Sels JP, Sengers RC, de Valk HW, Termeulen H, Zweers H, van Spronsen FJ.
van Rijn M, et al.
J Am Diet Assoc. 2008 Oct;108(10):1704-7. doi: 10.1016/j.jada.2008.07.008.
J Am Diet Assoc. 2008.
PMID: 18926138
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Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.
Adam S, Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M, Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, Hallam P, Heddrich-Ellerbrok M, Jacobs J, Jankowski C, Lachmann R, Lilje R, Link R, Lowry S, Luyten K, MacDonald A, Maritz C, Martins E, Meyer U, Müller E, Murphy E, Robertson LV, Rocha JC, Saruggia I, Schick P, Stafford J, Stoelen L, Terry A, Thom R, van den Hurk T, van Rijn M, van Teefelen-Heithoff A, Webster D, White FJ, Wildgoose J, Zweers H.
Adam S, et al.
Mol Genet Metab. 2013 Dec;110(4):454-9. doi: 10.1016/j.ymgme.2013.10.003. Epub 2013 Oct 10.
Mol Genet Metab. 2013.
PMID: 24206934
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Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.
Albersen M, Bonthuis M, de Roos NM, van den Hurk DA, Carbasius Weber E, Hendriks MM, de Sain-van der Velden MG, de Koning TJ, Visser G.
Albersen M, et al.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S283-8. doi: 10.1007/s10545-010-9149-8. Epub 2010 Jun 24.
J Inherit Metab Dis. 2010.
PMID: 20574715
Free PMC article.
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The success of dietary protein restriction in alkaptonuria patients is age-dependent.
de Haas V, Carbasius Weber EC, de Klerk JB, Bakker HD, Smit GP, Huijbers WA, Duran M, Poll-The BT.
de Haas V, et al. Among authors: carbasius weber ec.
J Inherit Metab Dis. 1998 Dec;21(8):791-8. doi: 10.1023/a:1005410416482.
J Inherit Metab Dis. 1998.
PMID: 9870204
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Energy expenditure in patients with propionic and methylmalonic acidaemias.
van Hagen CC, Carbasius Weber E, van den Hurk TA, Oudshoorn JH, Dorland L, Berger R, de Koning T.
van Hagen CC, et al.
J Inherit Metab Dis. 2004;27(1):111-2. doi: 10.1023/b:boli.0000016678.78134.7d.
J Inherit Metab Dis. 2004.
PMID: 15065575
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