Blau N - Search Results

1

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.

Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B, Blau N, Hoffmann GF. Echenne B, et al. Among authors: blau n. Pediatr Neurol. 2006 Nov;35(5):308-13. doi: 10.1016/j.pediatrneurol.2006.05.006. Pediatr Neurol. 2006. PMID: 17074599

2

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Among authors: blau n. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443

3

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.

Zorzi G, Redweik U, Trippe H, Penzien JM, Thöny B, Blau N. Zorzi G, et al. Among authors: blau n. Mol Genet Metab. 2002 Feb;75(2):174-7. doi: 10.1006/mgme.2001.3273. Mol Genet Metab. 2002. PMID: 11855937

4

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.

5

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT. Abeling NG, et al. Among authors: blau n. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. doi: 10.1016/j.ymgme.2006.03.010. Epub 2006 May 2. Mol Genet Metab. 2006. PMID: 16650784

6

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

7

Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.

Wali GM, Thony B, Blau N. Wali GM, et al. Among authors: blau n. Mov Disord. 2010 May 15;25(7):954-5. doi: 10.1002/mds.23032. Mov Disord. 2010. PMID: 20222129 No abstract available.

8

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.

9

Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

Dill P, Wagner M, Somerville A, Thöny B, Blau N, Weber P. Dill P, et al. Among authors: blau n. Neurology. 2012 Jan 31;78(5):e29-32. doi: 10.1212/WNL.0b013e3182452849. Neurology. 2012. PMID: 22291068 No abstract available.

10

Two Greek siblings with sepiapterin reductase deficiency.

Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Verbeek MM, et al. Among authors: blau n. Mol Genet Metab. 2008 Aug;94(4):403-409. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. Mol Genet Metab. 2008. PMID: 18502672

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

356 results

Search Page