Opladen T - Search Results

1

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: opladen t. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.

2

Tetrahydrobiopterin deficiency in human rabies.

Willoughby RE, Opladen T, Maier T, Rhead W, Schmiedel S, Hoyer J, Drosten C, Rupprecht CE, Hyland K, Hoffmann GF. Willoughby RE, et al. Among authors: opladen t. J Inherit Metab Dis. 2009 Feb;32(1):65-72. doi: 10.1007/s10545-008-0949-z. Epub 2008 Oct 25. J Inherit Metab Dis. 2009. PMID: 18949578

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. 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

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.

Opladen T, Hoffmann G, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf N. Opladen T, et al. Mov Disord. 2011 Jan;26(1):157-61. doi: 10.1002/mds.23329. Epub 2010 Sep 3. Mov Disord. 2011. PMID: 20818608

5

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. 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

6

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

Opladen T, Hoffmann GF, Blau N. Opladen T, et al. 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

7

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757

8

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

Opladen T, Hoffmann GF, Kühn AA, Blau N. Opladen T, et al. 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

9

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T. Zielonka M, et al. Among authors: opladen t. JIMD Rep. 2015;24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26. JIMD Rep. 2015. PMID: 26006722 Free PMC article.

10

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF. Opladen T, et al. Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14. Mol Genet Metab. 2016. PMID: 26597322

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