Opladen T - Search Results

1

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

2

Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution.

Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N. Ramaekers VT, et al. Among authors: opladen t. Neuropediatrics. 2002 Dec;33(6):301-8. doi: 10.1055/s-2002-37082. Neuropediatrics. 2002. PMID: 12571785 Free article.

3

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.

Opladen T, Zurflüh M, Kern I, Kierat L, Thöny B, Blau N. Opladen T, et al. Eur J Pediatr. 2005 Jun;164(6):395-6. doi: 10.1007/s00431-005-1638-7. Epub 2005 Feb 22. Eur J Pediatr. 2005. PMID: 15726407 Free article. Clinical Trial. No abstract available.

4

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J. Ramaekers VT, et al. Among authors: opladen t. N Engl J Med. 2005 May 12;352(19):1985-91. doi: 10.1056/NEJMoa043160. N Engl J Med. 2005. PMID: 15888699 Free article.

5

Analysis of 5-methyltetrahydrofolate in serum of healthy children.

Opladen T, Ramaekers VT, Heimann G, Blau N. Opladen T, et al. Mol Genet Metab. 2006 Jan;87(1):61-5. doi: 10.1016/j.ymgme.2005.08.011. Epub 2005 Nov 28. Mol Genet Metab. 2006. PMID: 16310391

6

A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.

von Mering M, Gabriel H, Opladen T, Hoffmann GF, Storch A. von Mering M, et al. Among authors: opladen t. J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):229. doi: 10.1136/jnnp.2007.130849. J Neurol Neurosurg Psychiatry. 2008. PMID: 18202219 No abstract available.

7

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

8

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. 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.

9

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.

10

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

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