Jeltsch, Kathrin Dr. sc. hum.Universität HeidelbergHeidelberg
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- Kräusslich, Hans-Georg (2)
- Müller, Barbara (2)
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- Himmelreich, Nastassja (2)
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- Cortès-Saladelafont, Elisenda (3)
- Thöny, Beat (2)
- Bao, Xinhua (2)
- Zeman, Jiri (2)
- Thöny, Beat (2)
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- Juliá-Palacios, Natalia (2)
- García-Cazorla, Àngels (2)
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- Simon, Anna (1)
- Dionisi-Vici, Carlo (1)
- Manti, Filippo (1)
- Hyland, Keith (1)
- Horvath, Gabriela Ana (1)
- Pearson, Toni S. (1)
- (further entries exist...)
Publications in heiBIB 
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Joachim, Alexander: Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools : a cluster randomised trial / Alexander Joachim, Felix Dewald, Isabelle Suárez, Michael Zemlin, Isabelle Lang, Regine Stutz, Anna … , 25 August 2021. - 10 S.
In: EClinicalMedicine, ISSN 2589-5370. 39(2021), Artikel-ID 101082, Seite 1-10
DOI: 10.1016/j.eclinm.2021.101082
- Stich, Maximilian: Transmission of severe acute respiratory syndrome coronavirus 2 in households with children, Southwest Germany, May–August 2020 / Maximilian Stich, Roland Elling, Hanna Renk, Aleš Janda, Sven F. Garbade, Barbara Müller, Hans-Georg… , October 25, 2021. - 11 S.
In: Emerging infectious diseases, ISSN 1080-6059. 27(2021), 12, Seite 3009-3019
DOI: 10.3201/eid2712.210978
- 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
- 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
- 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
- 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
- Jeltsch, Kathrin: Unrestricted somatic stem cells : interaction with CD34+ cells in vitro and in vivo, expression of homing genes and exclusion of tumorigenic potential / Kathrin Sonja Jeltsch, Teja Falk Radke, Stephanie Laufs, Frank Anton Giordano, Heike Allgayer, Frede… , 2011. - 9 S.
In: Cytotherapy, ISSN 1477-2566. 13(2011), 3, Seite 357-365
DOI: 10.3109/14653249.2010.523076
- Jeltsch, Kathrin: USSC (unrestricted somatic stem cells) aus humanem Nabelschnurblut : Interaktion mit CD34 + Stammzellen, Expression von Homing-relevanten Genen, gentherapeutische Untersuchungen und Untersuchungen zum Ausschluss eines tumorigenen Potenzials / vorgelegt von Kathrin Sonja Jeltsch, 2010 [ersch.] 2011. - VII, 115 Bl. : Ill., graph. Darst.
