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Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Hum Mutat. 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637.
Hum Mutat. 2008.
PMID: 17935162
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Zurflüh MR, Fiori L, Fiege B, Ozen I, Demirkol M, Gärtner KH, Thöny B, Giovannini M, Blau N.
Zurflüh MR, et al.
J Inherit Metab Dis. 2006 Dec;29(6):725-31. doi: 10.1007/s10545-006-0425-6. Epub 2006 Nov 7.
J Inherit Metab Dis. 2006.
PMID: 17091341
Free article.
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Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.
Opladen T, Zurflüh M, Kern I, Kierat L, Thöny B, Blau N.
Opladen T, et al.
Eur J Pediatr. 2005 Jun;164(6):395-6. doi: 10.1007/s00431-005-1638-7. Epub 2005 Feb 22.
Eur J Pediatr. 2005.
PMID: 15726407
Free article.
Clinical Trial.
No abstract available.
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Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Zurflüh MR, Giovannini M, Fiori L, Fiege B, Gokdemir Y, Baykal T, Kierat L, Gärtner KH, Thöny B, Blau N.
Zurflüh MR, et al.
Mol Genet Metab. 2005 Dec;86 Suppl 1:S96-103. doi: 10.1016/j.ymgme.2005.09.011. Epub 2005 Nov 7.
Mol Genet Metab. 2005.
PMID: 16275037
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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N.
Jäggi L, et al. Among authors: zurfluh mr.
Mol Genet Metab. 2008 Mar;93(3):295-305. doi: 10.1016/j.ymgme.2007.10.004. Epub 2007 Dec 3.
Mol Genet Metab. 2008.
PMID: 18060820
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