Blau N - Search Results

1

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V. Blau N, et al. Neurology. 2003 Sep 9;61(5):642-7. doi: 10.1212/01.wnl.0000082726.08631.e7. Neurology. 2003. PMID: 12963755

2

Cerebral folate deficiency.

Ramaekers VT, Blau N. Ramaekers VT, et al. Among authors: blau n. Dev Med Child Neurol. 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. Dev Med Child Neurol. 2004. PMID: 15581159 Free article.

3

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B, Blau N. Thöny B, et al. Among authors: blau n. Hum Mutat. 1997;10(1):11-20. doi: 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. Hum Mutat. 1997. PMID: 9222755 Review.

4

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N. Bonafé L, et al. Among authors: blau n. Clin Chem. 2001 Mar;47(3):477-85. Clin Chem. 2001. PMID: 11238300

5

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Bonafé L, et al. Among authors: blau n. Am J Hum Genet. 2001 Aug;69(2):269-77. doi: 10.1086/321970. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443547 Free PMC article.

6

Treatable neurotransmitter deficiency in mild phenylketonuria.

Bonafé L, Blau N, Burlina AP, Romstad A, Güttler F, Burlina AB. Bonafé L, et al. Among authors: blau n. Neurology. 2001 Sep 11;57(5):908-11. doi: 10.1212/wnl.57.5.908. Neurology. 2001. PMID: 11552030

7

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

Blau N, Bonafé L, Thöny B. Blau N, et al. Mol Genet Metab. 2001 Sep-Oct;74(1-2):172-85. doi: 10.1006/mgme.2001.3213. Mol Genet Metab. 2001. PMID: 11592814 Review.

8

Reduced folate transport to the CNS in female Rett patients.

Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N. Ramaekers VT, et al. Among authors: blau n. Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b. Neurology. 2003. PMID: 12939425

9

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.

10

More transgenic mouse models of dopamine deficiency.

Thöny B, Blau N. Thöny B, et al. Among authors: blau n. Ann Neurol. 2004 Feb;55(2):297-8. doi: 10.1002/ana.10847. Ann Neurol. 2004. PMID: 14755737 No abstract available.

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