Blau N - Search Results

1

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Lilleväli H, Pajusalu S, Wojcik MH, Goodrich J, Collins RL, Murumets Ü, Tammur P, Blau N, Lilleväli K, Õunap K. Lilleväli H, et al. Among authors: blau n. Mol Genet Genomic Med. 2020 Apr;8(4):e1154. doi: 10.1002/mgg3.1154. Epub 2020 Feb 5. Mol Genet Genomic Med. 2020. PMID: 32022462 Free PMC article.

2

Can untreated PKU patients escape from intellectual disability? A systematic review.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: blau n. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.

3

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B. Blau N, et al. Mol Genet Metab. 2018 Jan;123(1):1-5. doi: 10.1016/j.ymgme.2017.11.005. Epub 2017 Nov 20. Mol Genet Metab. 2018. PMID: 29174366 Review.

4

Molecular and metabolic bases of tetrahydrobiopterin (BH₄) deficiencies.

Himmelreich N, Blau N, Thöny B. Himmelreich N, et al. Among authors: blau n. Mol Genet Metab. 2021 Jun;133(2):123-136. doi: 10.1016/j.ymgme.2021.04.003. Epub 2021 Apr 19. Mol Genet Metab. 2021. PMID: 33903016 Review.

5

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

6

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Heintz C, Dobrowolski SF, Andersen HS, Demirkol M, Blau N, Andresen BS. Heintz C, et al. Among authors: blau n. Mol Genet Metab. 2012 Aug;106(4):403-11. doi: 10.1016/j.ymgme.2012.05.013. Epub 2012 May 29. Mol Genet Metab. 2012. PMID: 22698810 Free article.

7

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N. Shen N, et al. Among authors: blau n. Mol Genet Metab. 2016 Mar;117(3):328-35. doi: 10.1016/j.ymgme.2016.01.004. Epub 2016 Jan 12. Mol Genet Metab. 2016. PMID: 26803807

8

Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers.

Smith N, Longo N, Levert K, Hyland K, Blau N. Smith N, et al. Among authors: blau n. Mol Genet Metab. 2019 Apr;126(4):406-412. doi: 10.1016/j.ymgme.2019.02.001. Epub 2019 Feb 10. Mol Genet Metab. 2019. PMID: 30922814 Clinical Trial.

9

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: blau n. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.

10

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.

Blau N, Heizmann CW, Sperl W, Korenke GC, Hoffmann GF, Smooker PM, Cotton RG. Blau N, et al. Pediatr Res. 1992 Dec;32(6):726-30. doi: 10.1203/00006450-199212000-00021. Pediatr Res. 1992. PMID: 1283784

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