Thomas Opladen

Thomas Opladen

UNVERIFIED PROFILE

Are you Thomas Opladen?   Register this Author

Register author
Thomas Opladen

Thomas Opladen

Publications by authors named "Thomas Opladen"

Are you Thomas Opladen?   Register this Author

39Publications

1234Reads

44Profile Views

Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B.

Stem Cell Res 2019 Apr 8;36:101402. Epub 2019 Mar 8.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2019.101402DOI Listing
April 2019

Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.

Neuropediatrics 2019 02 29;50(1):2-14. Epub 2018 Oct 29.

Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Children's Hospital Heidelberg, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673630
Publisher Site
http://dx.doi.org/10.1055/s-0038-1673630DOI Listing
February 2019

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

J Inherit Metab Dis 2018 11 6;41(6):1103-1116. Epub 2018 Jul 6.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 669, 69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0225-9DOI Listing
November 2018

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

Neurol Genet 2017 Dec 1;3(6):e197. Epub 2017 Nov 1.

Department of Neurology (A.S.S.), Ain Shams University, Cairo, Egypt; German Center for Neurodegenerative Diseases (DZNE) (T.W.R., G.U.H.), Munich, Germany; Department of Neurology (T.W.R., G.U.H.), Technical University of Munich, Germany; Department of Neurology (S.H.M., G.D., F.H., G.K.), University Hospital Schleswig Holstein, Kiel, Germany; Medical Experimental Research Center (MERC) (M.S.), Mansoura University, Egypt; Institute for Human Genetics (U.M.), University of Giessen, Germany; Division of Neuropediatrics and Metabolic Medicine (T.O.), University Children's Hospital, Heidelberg, Germany; and Institute of Clinical Molecular Biology (B.-S.P., A.F.), Christian-Albrechts-Universität zu Kiel, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682855PMC
December 2017

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

Am J Med Genet A 2017 Jul 10;173(7):1878-1886. Epub 2017 May 10.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38252DOI Listing
July 2017

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

Stem Cell Res 2017 04 24;20:38-41. Epub 2017 Feb 24.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2017.02.010DOI Listing
April 2017

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

J Neurol 2017 Mar 4;264(3):578-582. Epub 2017 Jan 4.

Department of Neurology, Friedrich-Baur-Institute, University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-016-8387-6DOI Listing
March 2017

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

J Inherit Metab Dis 2017 01 26;40(1):5-20. Epub 2016 Sep 26.

Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9972-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203850PMC
January 2017

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

J Inherit Metab Dis 2017 01 16;40(1):75-101. Epub 2016 Nov 16.

Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-016-9999-9
Publisher Site
http://dx.doi.org/10.1007/s10545-016-9999-9DOI Listing
January 2017

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

Stem Cell Res 2016 11 26;17(3):580-583. Epub 2016 Oct 26.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S18735061163016
Publisher Site
http://dx.doi.org/10.1016/j.scr.2016.10.008DOI Listing
November 2016

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

Mol Genet Metab 2016 Jan 14;117(1):19-26. Epub 2015 Nov 14.

Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.11.007DOI Listing
January 2016

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

JIMD Rep 2015 26;24:109-13. Epub 2015 May 26.

Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2015_450
Publisher Site
http://dx.doi.org/10.1007/8904_2015_450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582026PMC
September 2015

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

Mol Genet Metab 2013 Mar 12;108(3):195-7. Epub 2013 Jan 12.

Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.01.001DOI Listing
March 2013

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

J Inherit Metab Dis 2012 Nov 23;35(6):963-73. Epub 2012 Jun 23.

Division of Inborn Metabolic Diseases, University Childrens Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9506-xDOI Listing
November 2012

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

Pediatr Neurol 2012 Jun;46(6):404-6

Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Maimónides Institute of Biomedical Research of Córdoba, University of Córdoba, Córdoba, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2012.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361688PMC
June 2012

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

Mol Cell Endocrinol 2012 Feb 28;349(2):195-201. Epub 2011 Oct 28.

Institut für Experimentelle Endokrinologie, Charité - Universitätsmedizin Berlin, Germany.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S030372071100638
Publisher Site
http://dx.doi.org/10.1016/j.mce.2011.10.024DOI Listing
February 2012

Cerebral folate deficiency: a neurometabolic syndrome?

Mol Genet Metab 2011 Nov 14;104(3):369-72. Epub 2011 Jun 14.

Department of Pediatrics, University Hospital RWTH Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.06.004DOI Listing
November 2011

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.

J Inherit Metab Dis 2011 Jun 17;34(3):819-26. Epub 2011 Mar 17.

Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9300-1DOI Listing
June 2011

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

Mov Disord 2011 Jan 3;26(1):157-61. Epub 2010 Sep 3.

University Children's Hospital Heidelberg, Division of Inborn Metabolic Diseases, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.23329DOI Listing
January 2011

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

J Inherit Metab Dis 2010 Dec 29;33(6):697-703. Epub 2010 Jul 29.

Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9164-9DOI Listing
December 2010

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

Mol Genet Metab 2010 Sep 16;101(1):48-54. Epub 2010 Jun 16.

University Children's Hospital Heidelberg, Division of Inborn Metabolic Diseases, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.05.006DOI Listing
September 2010

Analysis of 5-methyltetrahydrofolate in serum of healthy children.

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

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2005.08.011DOI Listing
January 2006

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

Eur J Pediatr 2005 Jun 22;164(6):395-6. Epub 2005 Feb 22.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-005-1638-7DOI Listing
June 2005

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

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

Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany.

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/abs/10.1056/NEJMoa043160
Publisher Site
http://dx.doi.org/10.1056/NEJMoa043160DOI Listing
May 2005

Flow cytometric cerebrospinal fluid analysis in children.

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

Department of Pediatrics, University Hospital UKA, Aachen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1078/0344-0338-00478DOI Listing
July 2004