heiBIB: Hörster, Friederike

Hörster, Friederike PD Dr. med.Universität HeidelbergHeidelberg

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englisch (30)
deutsch (4)

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Publikationen in heiBIB

Blankenstein, Oliver: Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter : Stellungnahme der Screeningkommission der Deutschen Gesellschaft für Kinder- und Jugendmedizin / Oliver Blankenstein, Christoph Härtel, Julia Hoefele, Georg F. Hoffmann, Friederike Hörster, Burkhar… , 11. Oktober 2024. - 3 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 172(2024), 11, Seite 1001-1003
DOI: 10.1007/s00112-024-02061-0
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
Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
Janda, Joachim: High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen / Joachim Janda, Sebastian Hegert, Jessica Bzdok, Rafael Tesorero, Ute Holtkamp, Siegfried Burggraf, E… , 2023. - 7 S. : Illustrationen
In: Klinische Pädiatrie, ISSN 0300-8630. (2023), Seite 1-7
DOI: 10.1055/a-2153-7789
Schnabel-Besson, Elena: Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria / Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmi… , 2023. - 15 S. : Illustrationen
In: Nutrients, ISSN 2072-6643. 15(2023), 15, Artikel-ID 3355, Seite 1-15
DOI: 10.3390/nu15153355
Tesorero, Rafael: A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry / Rafael Tesorero, Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze, Jana Hauke, Kathrin S… , March 10, 2023. - 16 S.
In: PLOS ONE, ISSN 1932-6203. 18(2023), 3 vom: März, Artikel-ID e0283024, Seite 1-16
DOI: 10.1371/journal.pone.0283024
Kovacevic, Alexander: Evaluation of right ventricular function in patients with propionic acidemia : a cross-sectional study / Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derl… , 5 January 2023. - 13 S. : Illustrationen
In: Children, ISSN 2227-9067. 10(2023), 1, Artikel-ID 113, Seite 1-13
DOI: 10.3390/children10010113
Dello Strologo, Luca: Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia : a multicenter analysis / Luca Dello Strologo, Marco Spada, Carlo Dionisi Vici, Marta Ciofi Degli Atti, Michelle Rheault, Anna… , 11 October 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 3 vom: Nov., Seite 265-272
DOI: 10.1016/j.ymgme.2022.09.010
Kovacevic, Alexander: Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study / Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derl… , 14 November 2022. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 349-358
DOI: 10.1016/j.ymgme.2022.10.007
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
Molema, Femke: Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism : an overview on European data / Femke Molema, Diego Martinelli, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Konin… , May 2021. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3 vom: Mai, Seite 593-605
DOI: 10.1002/jimd.12318
Hörster, Friederike: Delineating the clinical spectrum of isolated methylmalonic acidurias : cblA and mut / Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, … , 2021. - 22 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 193-214
DOI: 10.1002/jimd.12297
Mütze, Ulrike: Long-term outcomes of individuals with metabolic diseases identified through newborn screening / Ulrike Mütze, MD, Sven F. Garbade, PhD, Gwendolyn Gramer, MD, Martin Lindner, MD, Peter Freisinger, … , October 13, 2020. - 11 S.
In: Pediatrics, ISSN 1098-4275. 146(2020,5) Artikelnummer e20200444, 11 Seiten
DOI: 10.1542/peds.2020-0444
The European registry and network for Intoxication type Metabolic Diseases: Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation : options for treatment / Femke Molema, Florian Gleich, Peter Burgard, Ans T. van der Ploeg, Marshall L. Summar, Kimberly A. C… , 25 February 2019. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 126(2019), 4, Seite 397-405
DOI: 10.1016/j.ymgme.2019.02.003
Tuncel, Ali Tunç: Organic acidurias in adults : late complications and management / Ali Tunç Tuncel, Nikolas Boy, Marina A. Morath, Friederike Hörster, Ulrike Mütze, Stefan Kölker, 15 January 2018. - 12 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 5, Seite 765-776
DOI: 10.1007/s10545-017-0135-2
Maas, Roeltje R: Progressive deafness-dystonia due to SERAC1 mutations : a study of 67 cases / Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed,… . - 12 S.
In: Annals of neurology, ISSN 1531-8249. 82(2017), 6, S. 1004-1015
DOI: 10.1002/ana.25110
Wortmann, Saskia Brigitte: Eyes on MEGDEL : distinctive basal ganglia involvement in dystonia deafness syndrome / Saskia B. Wortmann, Peter M. van Hasselt, Ivo Barić, Alberto Burlina, Niklas Darin, Friederike Hörst… . - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 46(2015), 02, S. 098-103
DOI: 10.1055/s-0034-1399755
Kölker, Stefan: Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 2 : the evolving clinical phenotype / Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijbur… , November 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1157-1158
DOI: 10.1007/s10545-015-9868-y
Kölker, Stefan: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 2 : the evolving clinical phenotype / Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijbur… , November 2015. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1059-1074
DOI: 10.1007/s10545-015-9840-x
Baumgartner, Matthias R.: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia / Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, K… . -
London: BioMed Central, 02 September 2014. - 1 Online-Ressource (36 Seiten)
DOI: 10.1186/s13023-014-0130-8
Baumgartner, Matthias R.: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia / Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, K…
In: Orphanet journal of rare diseases, ISSN 1750-1172. 9(2014) Artikel-Nr. 130, 36 S.
DOI: 10.1186/s13023-014-0130-8
Zwickler, Tamaris: Metabolic decompensation in methylmalonic aciduria : which biochemical parameters are discriminative? / Tamaris Zwickler, Gisela Haege, Alina Riderer, Friederike Hörster, Georg F. Hoffmann, Peter Burgard,… . - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 5, S. 797-806
DOI: 10.1007/s10545-011-9426-1
Morath, Marina: Renal dysfunction in methylmalonic acidurias : review for the pediatric nephrologist / Marina A. Morath, Friederike Hörster, Sven W. Sauer. - 9 S.
In: Pediatric nephrology, ISSN 1432-198X. 28(2013), 2, S. 227-235
DOI: 10.1007/s00467-012-2245-2
Hörster, Friederike: Langzeitverlauf und Therapie der isolierten Methylmalonazidurien / vorgelegt von Friederike Hörster, 2011 [ersch.] 2012. - Getr. Zählung : Ill., graph. Darst.
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
Grulich-Henn, Jürgen: Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescents / J. Grulich-Henn, S. Lichtenstein, F. Hörster, G.F. Hoffmann, P.P. Nawroth, and A. Hamann, 2011. - 6 S.
In: International journal of endocrinology, ISSN 1687-8345. 2011(2011), Artikel-ID 541021, Seite 1-6
DOI: 10.1155/2011/541021
Meyburg, Jochen: Monitoring of intraportal liver cell application in children / Jochen Meyburg, M.D., Friederike Hoerster, Jan Schmidt, Johannes Poeschl, Georg F. Hoffmann, and Jen… , May 1, 2010. - 10 S.
In: Cell transplantation, ISSN 1555-3892. 19(2010), 5, Seite 629-638
DOI: 10.3727/096368909X485058
Sauer, Sven: Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited ﬂux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deﬁciency / Sven W. Sauer, Jürgen G. Okun, Gert Fricker, Anne Mahringer, Ines Müller, Linda R. Crnic, Chris Mühl… , 2006. - 12 S.
In: Journal of neurochemistry, ISSN 1471-4159. 97(2006), 3, Seite 899-910
DOI: 10.1111/j.1471-4159.2006.03813.x
Hörster, Friederike: Zwanghaftes Verhalten, Fatigue, Parästhesien und Hyperosmie als Leitsymptome einer juvenilen multiplen Sklerose / F. Hörster, R. Weber, G. Reuner, K. Kirchhof, D. Rating, F. Ebinger, 2004. - 3 S.
In: Aktuelle Neuropädiatrie, ISSN 0721-6106. 2003(2004), Seite 468-470
Kölker, Stefan: Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons / Stefan Kölker, Jürgen G. Okun, Barbara Ahlemeyer, Angela T.S. Wyse, Friederike Hörster, Moacir Wajne… , 05 April 2002. - 7 S.
In: Journal of neuroscience research, ISSN 1097-4547. 68(2002), 4, Seite 424-431
DOI: 10.1002/jnr.10189
Okun, Jürgen G.: Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity / Jürgen G. Okun, Friederike Hörster, Lilla M. Farkas, Patrik Feyh, Angela Hinz, Sven Sauer, Georg F. … , 14 February 2002. - 7 S.
In: The journal of biological chemistry, ISSN 1083-351X. 277(2002), 17, Seite 14674-14680
DOI: 10.1074/jbc.M200997200
Kölker, Stefan: Ca 2+ and Na + dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons / Stefan Kölker, Georg Köhr, Barbara Ahlemeyer, Jürgen G. Okun, Verena Pawlak, Friederike Hörster, Ert… , 2002. - 8 S.
In: Pediatric research, ISSN 1530-0447. 52(2002), 2, Seite 199-206
DOI: 10.1203/00006450-200208000-00011
Kölker, Stefan: NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria / Stefan Kölker, Verena Pawlak, Barbara Ahlemeyer, Jürgen G. Okun, Friederike Hörster, Ertan Mayatepek… , 11 July 2002. - 8 S.
In: European journal of neuroscience, ISSN 1460-9568. 16(2002), 1, Seite 21-28
DOI: 10.1046/j.1460-9568.2002.02055.x
Hörster, Friederike: NMDA-Rezeptoren und apoptotische Neurodegeneration während der frühen Entwicklung der Ratte / von Friederike Hörster, 2001. - 64 Bl : Ill., graph. Darst

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