Blau N - Search Results

1

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. Among authors: blau n. 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.

2

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

Fiege B, Ballhausen D, Kierat L, Leimbacher W, Goriounov D, Schircks B, Thöny B, Blau N. Fiege B, et al. Among authors: blau n. Mol Genet Metab. 2004 Jan;81(1):45-51. doi: 10.1016/j.ymgme.2003.09.014. Mol Genet Metab. 2004. PMID: 14728990

3

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N. Zurflüh MR, et al. Among authors: blau n. Hum Mutat. 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. Hum Mutat. 2008. PMID: 17935162

4

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.

Zorzi G, Thöny B, Blau N. Zorzi G, et al. Among authors: blau n. J Neurochem. 2002 Jan;80(2):362-4. doi: 10.1046/j.0022-3042.2001.00710.x. J Neurochem. 2002. PMID: 11902126 Free article.

5

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. Among authors: blau n. 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

6

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.

Scavelli R, Ding Z, Blau N, Haavik J, Martínez A, Thöny B. Scavelli R, et al. Among authors: blau n. Mol Genet Metab. 2005 Dec;86 Suppl 1:S153-5. doi: 10.1016/j.ymgme.2005.09.015. Epub 2005 Nov 11. Mol Genet Metab. 2005. PMID: 16290004

7

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

Thöny B, Blau N. Thöny B, et al. Among authors: blau n. Hum Mutat. 2006 Sep;27(9):870-8. doi: 10.1002/humu.20366. Hum Mutat. 2006. PMID: 16917893

8

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: blau n. 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

9

Tetrahydrobiopterin in biomedical research.

Blau N, Thöny B. Blau N, et al. J Inherit Metab Dis. 2009 Feb;32(1):1-2. doi: 10.1007/s10545-009-9967-8. J Inherit Metab Dis. 2009. PMID: 19169840 Free article. No abstract available.

10

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.

Opladen T, Abu Seda B, Rassi A, Thöny B, Hoffmann GF, Blau N. Opladen T, et al. Among authors: blau n. J Inherit Metab Dis. 2011 Jun;34(3):819-26. doi: 10.1007/s10545-011-9300-1. Epub 2011 Mar 17. J Inherit Metab Dis. 2011. PMID: 21416196

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