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• englisch (78)
• deutsch (2)

• Hoffmann, Georg F. (35)
• Kuseyri Hübschmann, Oya (19)
• Kölker, Stefan (16)
• Jeltsch, Kathrin (16)
• Brennenstuhl, Heiko (14)
• Jung-Klawitter, Sabine (14)
• Assmann, Birgit (12)

• Garbade, Sven (11)
• Blau, Nenad (10)
• Okun, Jürgen G. (10)
• Schröter, Julian (7)
• Syrbe, Steffen (5)
• Staufner, Christian (5)
• Hübschmann, Daniel (4)
• Gleich, Florian (4)
• Harting, Inga (4)
• Burgard, Peter (3)
• Moog, Ute (3)
• Zielonka, Matthias (3)
• Hörster, Friederike (3)
• Mütze, Ulrike (3)
• Eils, Roland (2)
• Paramasivam, Nagarajan (2)
• Haas, Dorothea (2)
• Lenz, Dominic (2)
• Posset, Roland (2)
• Bürger, Friederike (2)
• Himmelreich, Nastassja (2)
• Feyh, Patrik (2)
• Rossmann, Julia (2)
• Richter, Petra (2)
• Hinderhofer, Katrin (2)
• Granzow, Martin (2)
• Meyburg, Jochen (2)
• Thiel, Christian (2)
• Dattner, Tal (2)
• Fischer, Christine (2)
• Kiening, Karl (2)
• Evers, Christina (2)
• Boy, Nikolas (2)
• (weitere Einträge vorhanden...)

• Pons, Roser (10)
• Leuzzi, Vincenzo (9)
• Bertoldi, Mariarita (7)
• Sivri, H. Serap (6)
• Wassenberg, Tessa (5)
• Wassenberg, Tessa (4)
• Verbeek, Marcel M. (4)

• Blau, Nenad (3)
• Burlina, Alberto (3)
• Yildiz, Yilmaz (3)
• Mastrangelo, Mario (3)
• Cortès-Saladelafont, Elisenda (3)
• Artuch, Rafael (3)
• Syring, Hanna (3)
• García-Cazorla, Àngels (3)
• Gibson, K. Michael (2)
• López-Laso, Eduardo (2)
• Göhring, Gudrun (2)
• Manti, Filippo (2)
• Thöny, Beat (2)
• Didiášová, Miroslava (2)
• Bao, Xinhua (2)
• Zeman, Jiri (2)
• Thöny, Beat (2)
• Tabarki, Brahim (2)
• Porta, Francesco (2)
• Pearson, Toni S. (2)
• López-Laso, Eduardo (2)
• Horvath, Gabriella (2)
• Anikster, Yair (2)
• Mercimek-Andrews, Saadet (2)
• Flint, Lisa (2)
• Klein, Christine (2)
• Pearl, Phillip L. (2)
• Juliá-Palacios, Natalia (2)
• Tokatly Latzer, Itay (2)
• Roullet, Jean-Baptiste (2)
• Rotenberg, Alexander (2)
• Lee, Henry H. C. (2)
• DiBacco, Melissa L. (2)
• (weitere Einträge vorhanden...)

Publikationen in heiBIB     

• Küper, Katharina: Dipeptides in CSF and plasma : diagnostic and therapeutic potential in neurological diseases / Katharina Küper, Gernot Poschet, Julia Rossmann, Sven F. Garbade, Alexander Spiegelhalter, Dan Wen, … , 2025. - 9 S. : Illustrationen
  In: Amino acids, ISSN 1438-2199. 57(2025), Artikel-ID 2, Seite 1-9
  DOI: 10.1007/s00726-024-03434-1
• Tokatly Latzer, Itay: Clinical and molecular outcomes from the 5-Year natural history study of SSADH deficiency, a model metabolic neurodevelopmental disorder / Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H.C. Lee, Mariarita Bertoldi… , 24 April 2024. - 15 S. : Illustrationen
  In: Journal of neurodevelopmental disorders, ISSN 1866-1955. 16(2024), 1, Artikel-ID 21, Seite 1-15
  DOI: 10.1186/s11689-024-09538-9
• Opladen, Thomas: Neurotransmitters : it is all about communication! / Thomas Opladen, Mariarita Bertoldi, 15 May 2024. - 2 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: März, Seite 409-410
  DOI: 10.1002/jimd.12748
• Reischl-Hajiabadi, Anna Theresa: Newborn screening for aromatic l-amino acid decarboxylase deficiency : strategies, results, and implication for prevalence calculations / Anna T. Reischl-Hajiabadi, Jürgen G. Okun, Dirk Kohlmüller, Georgi Manukjan, Sebastian Hegert, Jürge… , 31 January 2024. - 7 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3, Artikel-ID 108148, Seite 108148-1-108148-7
  DOI: 10.1016/j.ymgme.2024.108148
• Julià-Palacios, Natalia: The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency / Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Hor… , May 2024. - 16 S. : Illustrationen
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: Mai, Seite 447-462
  DOI: 10.1002/jimd.12723
• Deininger, Luca: An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids / Luca Deininger, Sabine Jung-Klawitter, Ralf Mikut, Petra Richter, Manuel Fischer, Kianush Karimian-J… , 01 December 2023. - 9 S. : Illustrationen
  In: Scientific reports, ISSN 2045-2322. 13(2023), Artikel-ID 21231, Seite 1-9
  DOI: 10.1038/s41598-023-48343-7
• Tokatly Latzer, Itay: Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants / Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexa… , 14 November 2023. - 22 S.
  In: Human genetics, ISSN 1432-1203. 142(2023), 12, Seite 1755-1776
  DOI: 10.1007/s00439-023-02613-6
• Jung-Klawitter, Sabine: Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1 / Sabine Jung-Klawitter, Petra Richter, Yuheng Yuan, Karin Welzel, Marie Kube, Stella Bähr, Alexander … , 12 December 2023. - 16 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), online version of record, Seite 1-16
  DOI: 10.1002/jimd.12690
• Badnjarević, Ivana: Navigating the rare neurotransmitter disease diagnosis : Insights from patients and health care professionals / Ivana Badnjarevic, Kelly Moyer, Mariarita Bertoldi, Thomas Opladen, Lisa Flint, 2023. - 4 S. : Illustrationen
  In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), online ahead of print
  DOI: 10.1002/jimd.12675
• Himmelreich, Nastassja: Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , 7 July 2023. - 5 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 4, Artikel-ID 107647, Seite 1-5
  DOI: 10.1016/j.ymgme.2023.107647
• Himmelreich, Nastassja: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , July 2023. - 15 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107624, Seite 1-15
  DOI: 10.1016/j.ymgme.2023.107624
• Roubertie, Agathe: Gene therapy for aromatic L-amino acid decarboxylase deficiency : requirements for safe application and knowledge-generating follow-up / Agathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Lisa Flint, Michel A. … , 04 July 2023. - 13 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-13
  DOI: 10.1002/jimd.12649
• Yıldız, Yılmaz: Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism / Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, Filippo Manti, Meryem Karaca, Ida V… , 15 July 2023. - 16 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-16
  DOI: 10.1002/jimd.12658
• Schröter, Julian: aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment / Julian Schroeter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffm… , 2023. - 7 S.
  In: Computational and structural biotechnology journal, ISSN 2001-0370. 21(2023), Seite 1077-1083
  DOI: 10.1016/j.csbj.2023.01.027
• Alfonsi, Chiara: Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders / Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés P… , 04 June 2022. - 12 S. : Illustrationen
  In: Neuroradiology, ISSN 1432-1920. 64(2022), 11, Seite 2179-2190
  DOI: 10.1007/s00234-022-02989-8
• Kuseyri Hübschmann, Oya: Integrative approach to predict severity in nonketotic hyperglycinemia / Oya Kuseyri Hübschmann, MD, Natalia Alexandra Juliá-Palacios, MD, Mireia Olivella, PhD, Philipp Gude… , August 2022. - 12 S. : Illustrationen
  In: Annals of neurology, ISSN 1531-8249. 92(2022), 2 vom: Aug., Seite 292-303
  DOI: 10.1002/ana.26423
• Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 2022. - 5 S.
  In: Stem cell research, ISSN 1876-7753. 64(2022) vom: Okt., Artikel-ID 102879, Seite 1-5
  DOI: 10.1016/j.scr.2022.102879
• Rossmann, Julia: Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid / Julia Rossmann, Stine Christ, Sylvia Richter, Sven Friedrich Garbade, Georg Friedrich Hoffmann, Thom… , 14 October 2022. - 9 S.
  In: Journal of chromatography, ISSN 1873-376X. 1212(2022), Artikel-ID 123503, Seite 1-9
  DOI: 10.1016/j.jchromb.2022.123503
• Mütze, Ulrike: How longitudinal observational studies can guide screening strategy for rare diseases / Ulrike Mütze, Katharina Mengler, Nikolas Boy, Florian Gleich, Thomas Opladen, Sven F. Garbade, Stefa… , 29 April 2022. - 13 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 45(2022), 5, Seite 889-901
  DOI: 10.1002/jimd.12508
• Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / JulianSchröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Stef… , 2 August 2022. - 5 S.
  In: Stem cell research, ISSN 1876-7753. 64(2022), Artikel-ID 102879, Seite 1-5
  DOI: 10.1016/j.scr.2022.102879
• Götz, Maren: Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency / M. Goetz, J. Schröter, T. Dattner, H. Brennenstuhl, D. Lenza, T. Opladen, F. Hörster, J.G. Okun, G.F… , 19 July 2022. - 8 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 1, Seite 18-25
  DOI: 10.1016/j.ymgme.2022.07.007
• Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 24 May 2022. - 4 S.
  In: Stem cell research, ISSN 1876-7753. 62(2022), Artikel-ID 102818, Seite 1-4
  DOI: 10.1016/j.scr.2022.102818
• Scharping, Mara: Unmet needs of parents of children with Urea Cycle disorders / Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, S… , 12 May 2022. - 15 S.
  In: Children, ISSN 2227-9067. 9(2022), 5, Artikel-ID 712, Seite 1-15
  DOI: 10.3390/children9050712
• Kölker, Stefan: Rare disease registries are key to evidence-based personalized medicine : highlighting the european experience / Stefan Kölker, Florian Gleich, Ulrike Mütze and Thomas Opladen on behalf of Scientific Consortia of … , 04 March 2022. - 11 S.
  In: Frontiers in endocrinology, ISSN 1664-2392. 13(2022), Artikel-ID 832063, Seite 1-11
• Tristán-Noguero, Alba: Novel protein biomarkers of monoamine metabolism defects correlate with disease severity / Alba Tristán-Noguero, PhD, Eva Borràs, PhD, Marta Molero-Luis, PhD, Tessa Wassenberg, MD, PhD, Tessa… , March 2021. - 14 S.
  In: Movement disorders, ISSN 1531-8257. 36(2021), 3 vom: März, Seite 690-703
  DOI: 10.1002/mds.28362
• Kuseyri Hübschmann, Oya: Dopamine beta-hydroxylase deficiency / expert reviewer(s): Dr Oya Kuseyri Hübschmann - Pr Thomas Opladen - Dr Tessa Wassenberg, May 2021
  In: Orphanet. (2021), Seite ?
• Brennenstuhl, Heiko: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria / Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleic… , 2021. - 16 S. : Illustrationen
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 5, Seite 1272-1287
  DOI: 10.1002/jimd.12412
• Keller, Mareike: Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry / Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia P… , November 2021. - 14 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6 vom: Nov., Seite 1489-1502
  DOI: 10.1002/jimd.12416
• Kuseyri Hübschmann, Oya: Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients / Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, Filippo Manti, Gabriella Horvath, Elisend… , July 2021. - 13 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: Juli, Seite 1070-1082
  DOI: 10.1002/jimd.12360
• Opladen, Thomas: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec / Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Debora Call, Kim Green, Ulrike Schara, W… , 29 June 2021. - 10 S.
  In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), 8, Seite 738-747
  DOI: 10.1007/s00112-021-01232-7
• Opladen, Thomas: U-IMD : the first Unified European registry for inherited metabolic diseases / Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Ka… , 18 February 2021. - 10 S.
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 95, Seite 1-10
  DOI: 10.1186/s13023-021-01726-3
• Kuseyri Hübschmann, Oya: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines / Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Roser Pons, … , 20 September 2021. - 13 S.
  In: Nature Communications, ISSN 2041-1723. 12(2021), Artikel-ID 5529, Seite 1-13
  DOI: 10.1038/s41467-021-25515-5
• Longo, Carmen: Compound heterozygosis in AADC deficiency : a complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins / Carmen Longo, Riccardo Montioli, Giovanni Bisello, Luana Palazzi, Mario Mastrangelo, Heiko Brennenst… , 28 August 2021. - 9 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 134(2021), 1/2, Seite 147-155
  DOI: 10.1016/j.ymgme.2021.08.011
• Becker, Hera: Core content of pediatric specialty training Prioritization using the Delphi method / Hera Becker, Sven Garbade, Johannes Forster, Hans-Martin Bosse, Sören Huwendiek, Thomas Opladen & Fo… , 2021. - 9 S.
  In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 168(2021), 3, Seite 244-252
  DOI: 10.1007/s00112-019-0706-4
• Burlina, Alberto: Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency : the northeastern Italian experience / Alberto Burlina, Antonella Giuliani, Giulia Polo, Daniela Gueraldi, Vincenza Gragnaniello, Chiara Ca… , 13 March 2021. - 7 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 133(2021), 1, Seite 56-62
  DOI: 10.1016/j.ymgme.2021.03.009
• Meyer, Robert: One test for all : whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome / Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgi… , 22 January 2021
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 42, Seite 1-10
  DOI: 10.1186/s13023-021-01683-x
• Kuseyri Hübschmann, Oya: Aromatic L-amino acid decarboxylase deficiency / expert reviewer(s): Dr Oya Kuseyri Hübschmann - Pr Thomas Opladen, July 2020
  In: Orphanet. (2020), Seite ?
• Zech, Michael: Monogenic variants in dystonia : an exome-wide sequencing study / Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao,… , 21 October 2020. - 11 S.
  In: The lancet, ISSN 1474-4465. 19(2020), 11, Seite 908-918
  DOI: 10.1016/S1474-4422(20)30312-4
• Brennenstuhl, Heiko: Succinic semialdehyde dehydrogenase deficiency : in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 / Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine … , 13 November 2020. - 15 Seiten
  In: International journal of molecular sciences, ISSN 1422-0067. 21(2020), 22, Artikel-ID 8578, Seite 1-15
  DOI: 10.3390/ijms21228578
• Brennenstuhl, Heiko: Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency / Heiko Brennenstuhl, Sven F. Garbade, Jürgen G. Okun, Patrik Feyh, Georg F. Hoffmann, Claus-Dieter La… , 07 July 2020. - 8 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 131(2020), 1/2, Seite 163-170
  DOI: 10.1016/j.ymgme.2020.07.001
• Pearson, Toni S.: AADCdeficiency from infancy to adulthood : Symptoms and developmental outcome in an international cohort of 63 patients / Toni S. Pearson, Laura Gilbert, Thomas Opladen, Angeles Garcia-Cazorla, Mario Mastrangelo, Vincenzo … , Sept 2020. - 10 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 5, Seite 1121-1130
  DOI: 10.1002/jimd.12247
• Klinke, Glynis: Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform / Glynis Klinke, Sylvia Richter, Péter Monostori, Brigitte Schmidt‐Mader, Angels García‐Cazorla, Rafae… , 13 January 2020. - 14 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 4, Seite 712-725
  DOI: 10.1002/jimd.12213
• Opladen, Thomas: Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 05 August 2020. - 5 S.
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 202, Seite 1-5
  DOI: 10.1186/s13023-020-01464-y
• Opladen, Thomas: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 26 May 2020. - 30 S.
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 126, Seite 1-30
  DOI: 10.1186/s13023-020-01379-8
• Didiášová, Miroslava: Succinic semialdehyde dehydrogenase deficiency : an update / Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, T… , 19 February 2020. - 26 S.
  In: Cells, ISSN 2073-4409. 9(2020,2) Artikel-Nummer 477, 26 Seiten
  DOI: 10.3390/cells9020477
• Brennenstuhl, Heiko: High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots / Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, … , 2020. - 9 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 3, Seite 602-610
  DOI: 10.1002/jimd.12208
• Breuer, Maximilian: QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis / Maximilian Breuer, Luca Guglielmi, Matthias Zielonka, Verena Hemberger, Stefan Kölker, Jürgen G. Oku… , April 17, 2019. - 19 S.
  In: PLOS ONE, ISSN 1932-6203. 14(2019,4) Artikel-Nummer e0215162, 19 Seiten
  DOI: 10.1371/journal.pone.0215162
• Brennenstuhl, Heiko: Inherited disorders of neurotransmitters : classification and practical approaches for diagnosis and treatment / Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen, 2019. - 13 S.
  In: Neuropediatrics, ISSN 1439-1899. 50(2019), 1, Seite 2-14
  DOI: 10.1055/s-0038-1673630
• Jung-Klawitter, Sabine: Generation of 2 iPSC clones from a patient with DNAJC12 deficiency : DHMCi003-A and DHMCi003-B / Sabine Jung-Klawitter, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Thomas Opla… , 8 March 2019. - 5 S.
  In: Stem cell research, ISSN 1876-7753. 36(2019) Artikel-Nummer 101402, 5 Seiten
  DOI: 10.1016/j.scr.2019.101402
• Jung-Klawitter, Sabine: Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism / Sabine Jung‐Klawitter, Thomas Opladen, 6 July 2018. - 14 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 6, Seite 1103-1116
  DOI: 10.1007/s10545-018-0225-9
• Kuseyri Hübschmann, Oya: Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders / O. Kuseyri, A. Weissbach, N. Bruggemann, C. Klein, M. Giżewska, D. Karall, S. Scholl‐Bürgi, H. Roman… , 28 March 2018. - 15 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 5, Seite 849-863
  DOI: 10.1007/s10545-018-0169-0
• Meyburg, Jochen: Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders / Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, Andrea Schlune, Jens-Peter Schenk, Jan Schmidt, J… , January 2018. - 10 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 1, Seite 81-90
  DOI: 10.1007/s10545-017-0097-4
• El-Hattab, Ayman W.: Molecular and clinical spectra of FBXL4 deficiency / Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A. Faqeih, Ali Al Asmari, Mo… , December 2017. - 11 S.
  In: Human mutation, ISSN 1098-1004. 38(2017), 12, Seite 1649-1659
  DOI: 10.1002/humu.23341
• Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… , 30 June 2017. - 11 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, Seite 297-307
  DOI: 10.1016/j.ymgme.2017.06.014
• Evers, Christina: Diagnosis of CoPAN by whole exome sequencing : waking up a sleeping tiger's eye / Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer… . - 9 S.
  In: American journal of medical genetics, ISSN 1552-4833. 173(2017), 7, S. 1878-1886
  DOI: 10.1002/ajmg.a.38252
• Batllori, Marta: Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients / Marta Batllori, Marta Molero-Luis, Luisa Arrabal, Javier de las Heras, Joaquín-Alejandro Fernandez-R… , 07 November 2017. - 9 S.
  In: Scientific reports, ISSN 2045-2322. 7(2017) Articel number 14675, 9 Seiten
  DOI: 10.1038/s41598-017-15063-8
• Karin, Ivan: Folinic acid therapy in cerebral folate deficiency : marked improvement in an adult patient / Ivan Karin, Ingo Borggraefe, Claudia B. Catarino, Christoph Kuhm, Konstanze Hoertnagel, Saskia Bisku… . - 5 S.
  In: Journal of neurology, ISSN 1432-1459. 264(2017), 3, S. 578-582
  DOI: 10.1007/s00415-016-8387-6
• Jung-Klawitter, Sabine: Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1 / Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen, 24 February 2017. - 4 S.
  In: Stem cell research, ISSN 1876-7753. 20(2017), Seite 38-41
  DOI: 10.1016/j.scr.2017.02.010
• Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… . -
  London: BioMed Central, 18 January 2017. - 1 Online-Ressource (21 Seiten) : Diagramme
  DOI: 10.1186/s13023-016-0522-z
• Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… , 18 January 2017
  In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 12, 21 Seiten
  DOI: 10.1186/s13023-016-0522-z
• Barić, Ivo: Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders / Ivo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, Yin-Hsiu Chien, Dries Dobbelaere,… , 2017. - 16 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 1, Seite 5-20
  DOI: 10.1007/s10545-016-9972-7
• Boy, Nikolas: Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision / Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjor… , 2017. - 27 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 1, Seite 75-101
  DOI: 10.1007/s10545-016-9999-9
• Opladen, Thomas: The International Working Group on Neurotransmitter related Disorders (iNTD) : a worldwide research project focused on primary and secondary neurotransmitter disorders / Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Edua… , 20 October 2016. - 6 S.
  In: Molecular genetics and metabolism reports, ISSN 2214-4269. 9(2016), Seite 61-66
  DOI: 10.1016/j.ymgmr.2016.09.006
• Jung-Klawitter, Sabine: Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC / Sabine Jung-Klawitter, Nenad Blau, Attila Sebe, Juliane Ebersold, Gudrun Göhring, Thomas Opladen, 26 October 2016. - 4 S.
  In: Stem cell research, ISSN 1876-7753. 17(2016), 3, Seite 580-583
  DOI: 10.1016/j.scr.2016.10.008
• Zielonka, Matthias: Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency / Matthias Zielonka, Nawal Makhseed, Nenad Blau, Markus Bettendorf, Georg Friedrich Hoffmann, Thomas O… , 26 May 2015. - 5 S.
  In: JIMD reports, ISSN 2192-8312. 24(2015), Seite 109-113
  DOI: 10.1007/8904_2015_450
• Opladen, Thomas: In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis / Thomas Opladen, Martin Lindner, Anibh M. Das, Thorsten Marquardt, Aneal Khan, Sukru H. Emre, Barbara… , 2016. - 8 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 117(2016), 1, Seite 19-26
  DOI: 10.1016/j.ymgme.2015.11.007
• Mencacci, Niccolò E.: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers / Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, Christos Ganos, Vincent Plagnol, James M. P… . - 13 S.
  In: Brain, ISSN 1460-2156. 137(2014), 9, S. 2480-2492
  DOI: 10.1093/brain/awu179
• Koht, Jeanette: Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene / J. Koht, A. Rengmark, T. Opladen, K. A. Bjørnar, T. Selberg, C. M. E. Tallaksen, N. Blau, M. Toft. - 6 S.
  In: Acta neurologica Scandinavica, ISSN 1600-0404. 129(2014), 198, S. 7-12
  DOI: 10.1111/ane.12230
• Opladen, Thomas: Aspartylglucosaminuria : unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family / Opladen, Thomas ; Ebinger, Friedrich ; Zschocke, Johannes ; Sengupta, Devjani ; Ben-Omran, Tawfeg ; … . - 7 S.
  In: Journal of child neurology, ISSN 1708-8283. 29(2014), 1, S. 36-42
  DOI: 10.1177/0883073812469049
• Opladen, Thomas: Diagnostik, Therapie und Verlauf der Störungen des zerebralen Neurotransmitter-, Pterin- und Folatstoffwechsels / vorgelegt von Thomas Opladen, 2014. - Getr. Zählung : Ill., graph. Darst.
• Opladen, Thomas: Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia / Thomas Opladen, Georg F. Hoffmann, Andrea A. Kühn, Nenad Blau, 12 January 2013. - 3 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 108(2013), 3, Seite 195-197
  DOI: 10.1016/j.ymgme.2013.01.001
• Schleede, Lena: Pediatric herpes simplex virus encephalitis : a retrospective multicenter experience / Lena Schleede, Wolfgang Bueter, Sara Baumgartner-Sigl, Thomas Opladen, Katharina Weigt-Usinger, Susa… , January 16, 2013. - 11 S.
  In: Journal of child neurology, ISSN 1708-8283. 28(2013), 3, Seite 321-331
  DOI: 10.1177/0883073812471428
• Brüggemann, Norbert: Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency / Norbert Brüggemann, Juliane Spiegler, Yorck Hellenbroich, Thomas Opladen, Susanne A. Schneider, Ulri… . - 5 S.
  DOI: 10.1001/archneurol.2012.104
• Opladen, Thomas: An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia / Thomas Opladen, Georg F. Hoffmann, Nenad Blau
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 6, S. 963-973
  DOI: 10.1007/s10545-012-9506-x
• López-Laso, Eduardo: Dyskinesias as a limiting factor in the treatment of segawa disease / Eduardo López-Laso, PhD, Katrin Beyer, PhD, Thomas Opladen, PhD, Rafael Artuch, PhD, Rachel Saunders… . - 3 S.
  In: Pediatric neurology, ISSN 1873-5150. 46(2012), 6, S. 404-406
  DOI: 10.1016/j.pediatrneurol.2012.03.003
• Opladen, Thomas: Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia / Thomas Opladen, Georg Hoffmann, Friederike Hörster, Anne-Bärbel Hinz, Katharina Neidhardt, Christine… , 2011. - 5 S.
  In: Movement disorders, ISSN 1531-8257. 26(2011), 1 vom: Jan., Seite 157-161
  DOI: 10.1002/mds.23329
• López-Laso, Eduardo: Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease / Eduardo López-Laso, Araceli Sánchez-Raya, Juan Antonio Moriana, Eduardo Martínez-Gual, Rafael Camino… , 10 May 2011. - 8 S.
  In: Journal of neurology, ISSN 1432-1459. 258(2011), 12, Seite 2155-2162
  DOI: 10.1007/s00415-011-6079-9
• Mangold, Sarah Jasmin Laureen: Cerebral folate deficiency : a neurometabolic syndrome? / Sarah Mangold, Nenad Blau, Thomas Opladen, Robert Steinfeld, Britta Weßling, Klaus Zerres, Martin Hä… , 14 June 2011. - 4 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 104(2011), 3, Seite 369-372
  DOI: 10.1016/j.ymgme.2011.06.004
• Opladen, Thomas: Phenylalanine loading in pediatric patients with dopa-responsive dystonia : revised test protocol and pediatric cutoff values / Thomas Opladen, Jürgen G. Okun, Peter Burgard, Nenad Blau, Georg F. Hoffmann, 29 July 2010. - 7 S.
  In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), 6 vom: Dez., Seite 697-703
  DOI: 10.1007/s10545-010-9164-9
• Opladen, Thomas: Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport / Thomas Opladen, Nenad Blau, Vincent Th. Ramaekers, 16 June 2010. - 7 S.
  In: Molecular genetics and metabolism, ISSN 1096-7206. 101(2010), 1, Seite 48-54
  DOI: 10.1016/j.ymgme.2010.05.006

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