Blau N - Search Results

1

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

Opladen T, Hoffmann GF, Kühn AA, Blau N. Opladen T, et al. Among authors: blau n. Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12. Mol Genet Metab. 2013. PMID: 23375473

2

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport.

Opladen T, Blau N, Ramaekers VT. Opladen T, et al. Among authors: blau n. Mol Genet Metab. 2010 Sep;101(1):48-54. doi: 10.1016/j.ymgme.2010.05.006. Epub 2010 Jun 16. Mol Genet Metab. 2010. PMID: 20619709 Free article.

3

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

Opladen T, Okun JG, Burgard P, Blau N, Hoffmann GF. Opladen T, et al. Among authors: blau n. J Inherit Metab Dis. 2010 Dec;33(6):697-703. doi: 10.1007/s10545-010-9164-9. Epub 2010 Jul 29. J Inherit Metab Dis. 2010. PMID: 20668943 Clinical Trial.

4

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

5

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Opladen T, Hoffmann GF, Blau N. Opladen T, et al. Among authors: blau n. J Inherit Metab Dis. 2012 Nov;35(6):963-73. doi: 10.1007/s10545-012-9506-x. Epub 2012 Jun 23. J Inherit Metab Dis. 2012. PMID: 22729819

6

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

7

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Anikster Y, et al. Among authors: blau n. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132689 Free PMC article.

8

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.

9

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Himmelreich N, Shen N, Okun JG, Thiel C, Hoffmann GF, Blau N. Himmelreich N, et al. Among authors: blau n. Mol Genet Metab. 2018 Sep;125(1-2):86-95. doi: 10.1016/j.ymgme.2018.06.011. Epub 2018 Jun 23. Mol Genet Metab. 2018. PMID: 30037505

10

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Ferreira CR, Hoffmann GF, Blau N. Ferreira CR, et al. Among authors: blau n. Mol Genet Metab. 2019 May;127(1):28-30. doi: 10.1016/j.ymgme.2019.03.007. Epub 2019 Mar 26. Mol Genet Metab. 2019. PMID: 30928149 Free PMC article. Review.

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