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Items: 44

1.

Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism.

Jung-Klawitter S, Opladen T.

J Inherit Metab Dis. 2018 Jul 6. doi: 10.1007/s10545-018-0225-9. [Epub ahead of print]

PMID:
29980968
2.

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

Kuseyri O, Weissbach A, Bruggemann N, Klein C, Giżewska M, Karall D, Scholl-Bürgi S, Romanowska H, Krzywińska-Zdeb E, Monavari AA, Knerr I, Yapıcı Z, Leuzzi V, Opladen T.

J Inherit Metab Dis. 2018 Mar 28. doi: 10.1007/s10545-018-0169-0. [Epub ahead of print]

PMID:
29594647
3.

Entrustable professional activities in post-licensure training in primary care pediatrics: Necessity, development and implementation of a competency-based post-graduate curriculum.

Fehr F, Weiß-Becker C, Becker H, Opladen T.

GMS J Med Educ. 2017 Nov 15;34(5):Doc67. doi: 10.3205/zma001144. eCollection 2017.

4.

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.

Shalash AS, Rösler TW, Müller SH, Salama M, Deuschl G, Müller U, Opladen T, Petersen BS, Franke A, Hopfner F, Kuhlenbäumer G, Höglinger GU.

Neurol Genet. 2017 Nov 1;3(6):e197. doi: 10.1212/NXG.0000000000000197. eCollection 2017 Dec.

5.

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R.

Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8.

6.

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

Meyburg J, Opladen T, Spiekerkötter U, Schlune A, Schenk JP, Schmidt J, Weitz J, Okun J, Bürger F, Omran TB, Abdoh G, Al Rifai H, Monavari A, Konstantopoulou V, Kölker S, Yudkoff M, Hoffmann GF.

J Inherit Metab Dis. 2018 Jan;41(1):81-90. doi: 10.1007/s10545-017-0097-4. Epub 2017 Oct 12.

PMID:
29027067
7.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
8.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U.

Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30.

PMID:
28688840
9.

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U.

Am J Med Genet A. 2017 May 10. doi: 10.1002/ajmg.a.38252. [Epub ahead of print]

PMID:
28489334
10.

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

Jung-Klawitter S, Ebersold J, Göhring G, Blau N, Opladen T.

Stem Cell Res. 2017 Apr;20:38-41. doi: 10.1016/j.scr.2017.02.010. Epub 2017 Feb 24.

11.

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.

Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.

12.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.

Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Review.

13.

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Karin I, Borggraefe I, Catarino CB, Kuhm C, Hoertnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T.

J Neurol. 2017 Mar;264(3):578-582. doi: 10.1007/s00415-016-8387-6. Epub 2017 Jan 4. No abstract available.

PMID:
28054128
14.

Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

Jung-Klawitter S, Blau N, Sebe A, Ebersold J, Göhring G, Opladen T.

Stem Cell Res. 2016 Nov;17(3):580-583. doi: 10.1016/j.scr.2016.10.008. Epub 2016 Oct 26.

15.

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.

J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. Review.

PMID:
27853989
16.

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.

Opladen T, Cortès-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla À; International Working Group on Neurotransmitter related disorders (iNTD).

Mol Genet Metab Rep. 2016 Oct 20;9:61-66. eCollection 2016 Dec.

17.

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ.

J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. Review.

18.

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.

Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14.

PMID:
26597322
19.

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

Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T.

JIMD Rep. 2015;24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26.

20.

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium.

Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2.

21.

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M.

Acta Neurol Scand Suppl. 2014;(198):7-12. doi: 10.1111/ane.12230.

PMID:
24588500
22.

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

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

Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12.

PMID:
23375473
23.

Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience.

Schleede L, Bueter W, Baumgartner-Sigl S, Opladen T, Weigt-Usinger K, Stephan S, Smitka M, Leiz S, Kaiser O, Kraus V, van Baalen A, Skopnik H, Hartmann H, Rostasy K, Lücke T, Schara U, Häusler M.

J Child Neurol. 2013 Mar;28(3):321-31. doi: 10.1177/0883073812471428. Epub 2013 Jan 16.

PMID:
23329585
24.

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.

J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26.

PMID:
23271757
25.

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

Opladen T, Hoffmann GF, Blau N.

J Inherit Metab Dis. 2012 Nov;35(6):963-73. doi: 10.1007/s10545-012-9506-x. Epub 2012 Jun 23.

PMID:
22729819
26.

Dyskinesias as a limiting factor in the treatment of Segawa disease.

López-Laso E, Beyer K, Opladen T, Artuch R, Saunders-Pullman R.

Pediatr Neurol. 2012 Jun;46(6):404-6. doi: 10.1016/j.pediatrneurol.2012.03.003.

27.

Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.

Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C.

Arch Neurol. 2012 Aug;69(8):1071-5. doi: 10.1001/archneurol.2012.104. Erratum in: Arch Neurol. 2013 Sep 1;70(9):1201. Dosage error in article text.

PMID:
22473768
28.

Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?

Hoefig CS, Renko K, Piehl S, Scanlan TS, Bertoldi M, Opladen T, Hoffmann GF, Klein J, Blankenstein O, Schweizer U, Köhrle J.

Mol Cell Endocrinol. 2012 Feb 26;349(2):195-201. doi: 10.1016/j.mce.2011.10.024. Epub 2011 Oct 28.

PMID:
22061622
29.

Cerebral folate deficiency: a neurometabolic syndrome?

Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M.

Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14.

PMID:
21737328
30.

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R.

J Neurol. 2011 Dec;258(12):2155-62. doi: 10.1007/s00415-011-6079-9. Epub 2011 May 10.

PMID:
21556877
31.

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.

J Inherit Metab Dis. 2011 Jun;34(3):819-26. doi: 10.1007/s10545-011-9300-1. Epub 2011 Mar 17. Erratum in: J Inherit Metab Dis. 2011 Jun;34(3):843.

PMID:
21416196
32.

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.

Mov Disord. 2011 Jan;26(1):157-61. doi: 10.1002/mds.23329. Epub 2010 Sep 3.

PMID:
20818608
33.

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.

J Inherit Metab Dis. 2010 Dec;33(6):697-703. doi: 10.1007/s10545-010-9164-9. Epub 2010 Jul 29. Erratum in: J Inherit Metab Dis. 2010 Dec;33(6):811-2.

PMID:
20668943
34.

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

Opladen T, Blau N, Ramaekers VT.

Mol Genet Metab. 2010 Sep;101(1):48-54. doi: 10.1016/j.ymgme.2010.05.006. Epub 2010 Jun 16.

PMID:
20619709
35.

Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.

Cario H, Bode H, Debatin KM, Opladen T, Schwarz K.

Neurology. 2009 Dec 15;73(24):2127-9. doi: 10.1212/WNL.0b013e3181c679df. No abstract available.

PMID:
20018644
36.

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.

J Inherit Metab Dis. 2009 Feb;32(1):65-72. doi: 10.1007/s10545-008-0949-z. Epub 2008 Oct 25.

PMID:
18949578
37.

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.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):229. doi: 10.1136/jnnp.2007.130849. No abstract available.

PMID:
18202219
38.

Analysis of 5-methyltetrahydrofolate in serum of healthy children.

Opladen T, Ramaekers VT, Heimann G, Blau N.

Mol Genet Metab. 2006 Jan;87(1):61-5. Epub 2005 Nov 28.

PMID:
16310391
39.

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J.

N Engl J Med. 2005 May 12;352(19):1985-91.

40.

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.

Eur J Pediatr. 2005 Jun;164(6):395-6. Epub 2005 Feb 22. No abstract available.

PMID:
15726407
41.

Flow cytometric cerebrospinal fluid analysis in children.

Häusler M, Sellhaus B, Schweizer K, Ramaekers VT, Opladen T, Kleines M.

Pathol Res Pract. 2003;199(10):667-75.

PMID:
14666969
42.

Reduced folate transport to the CNS in female Rett patients.

Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N.

Neurology. 2003 Aug 26;61(4):506-15.

PMID:
12939425
44.

Peripheral decrease and pulmonary homing of CD4+CD45RO+ helper memory T cells in cystic fibrosis.

Häusler M, Schweizer K, Biesterfel S, Opladen T, Heimann G.

Respir Med. 2002 Feb;96(2):87-94.

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