Brennenstuhl, HeikoUniversität HeidelbergHeidelberg
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Publications in heiBIB 
- Betzler, Isabel R.: Response to Downie et al. / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , 14 January 2025. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1, Artikel-ID e12837, Seite 1-2
DOI: 10.1002/jimd.12837
- Doll, Elena Sophia: How do parents decide on genetic testing in pediatrics? : A systematic review / Elena Sophia Doll, Seraina Petra Lerch, Katja Maria Schmalenberger, Karla Alex, Stefan Kölker, Heiko… , 19 February 2025. - 14 S. : Diagramme
In: Genetics in medicine, ISSN 1530-0366. 27(2025), 5 vom: Mai, Artikel-ID 101390, Seite 1-14
DOI: 10.1016/j.gim.2025.101390
- Betzler, Isabel R.: Comparative analysis of gene and disease selection in genomic newborn screening studies / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , September 2024. - 26 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5 vom: Sept., Seite 945-970
DOI: 10.1002/jimd.12750
- 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
- Frank, Sarah: Absence of the RING domain in MID1 results in patterning defects in the developing human brain / Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko … , April 2024. - 14 S. : Illustrationen
In: Life science alliance, ISSN 2575-1077. 7(2024), 4 vom: Apr., Artikel-ID e202302288, Seite 1-14
DOI: 10.26508/lsa.202302288
- Wimmer, Moritz Claudius: Hao-Fountain syndrome : 32 novel patients reveal new insights into the clinical spectrum / Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Ch… , 14 January 2024. - 11 S. : Illustrationen
In: Clinical genetics, ISSN 1399-0004. (2024) online ahead of print
DOI: 10.1111/cge.14480
- Brennenstuhl, Heiko: Genomisches Neugeborenenscreening - Forschungsansätze, Herausforderungen und Chancen / Heiko Brennenstuhl, Christian P. Schaaf, 13 October 2023. - 11 S. : Illustrationen
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, ISSN 1437-1588. 66(2023), 11, Seite 1232-1242
DOI: 10.1007/s00103-023-03777-2
- 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
- Vogel, Georg: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants / Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Fe… , June 2023. - 16 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16
DOI: 10.1016/j.gim.2022.09.015
- 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
- Schröter, Julian: Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies / Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma… , 11 January 2022. - 9 S.
In: European journal of human genetics, ISSN 1476-5438. 30(2022), 3, Seite 298-306
DOI: 10.1038/s41431-021-01027-0
- Weiß, Claudia: Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg : an observational cohort study / Claudia Weiß, Andreas Ziegler, Lena-Luise Becker, Jessika Johannsen, Heiko Brennenstuhl, Gudrun Schr… , January 2022. - 11 S.
In: The lancet child & adolescent health, ISSN 2352-4650. 6(2022), 1, Seite 17-27
DOI: 10.1016/S2352-4642(21)00287-X
- 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
- 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
- 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
- Semino, Francesca: Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder / Francesca Semino, Julian Schröter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck… , 2021. - 7 S. : Illustrationen
In: Human mutation, ISSN 1098-1004. 42(2021), 9, Seite 1094-1100
DOI: 10.1002/humu.24245
- 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
- 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
- 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
- Brennenstuhl, Heiko: Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation : a cross-sectional analysis of the Emergency Events Database / Heiko Brennenstuhl, Manuel Will, Elias Ries, Konstantin Mechler, Sven Garbade, Markus Ries, 2021. - 8 S.
In: BMJ open, ISSN 2044-6055. 11(2021), 6, Artikel-ID e046359, Seite 1-8
DOI: 10.1136/bmjopen-2020-046359
- Driedger, Jan Henje: Refining genotypes and phenotypes in KCNA2-related neurological disorders / Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobia… , 10 March 2021
In: International journal of molecular sciences, ISSN 1422-0067. 22(2021), 6, Artikel-ID 2824, Seite 1-16
DOI: 10.3390/ijms22062824
- 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
- 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: Temperature-related disasters in Europe : a cross-sectional analysis of the emergency events database from a pediatric perspective / Heiko Brennenstuhl, MD; Manuel Will, PhD; Elias Ries; Konstantin Mechler, MD; Sven Garbade, PhD; Mar… , November 22, 2019. - 29 S.
In: medRxiv. (2019), Artikel-ID 19012633, Seite 1-29
DOI: 10.1101/19012633
- 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
- 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
- Brennenstuhl, Heiko: Die Rolle des Faktors I kappa B zeta als Effektor des atypischen, NF kappa B-abhängigen Zelltods im Glioblastom / vorgelegt von Heiko Brennenstuhl. -
Tübingen, 2016. - VIII, 139 Seiten : Illustrationen
