heiBIB: Zielonka, Matthias

Zielonka, Matthias PD; Dr. med.Universität HeidelbergHeidelberg

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englisch (34)
deutsch (2)

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Publikationen in heiBIB

Zielonka, Matthias: Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders / Matthias Zielonka, Stefan Kölker, Sven F. Garbade, Florian Gleich, Sandesh C.S. Nagamani, Andrea L. … , 19 August 2024. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 143(2024), 1, Artikel-ID 108566, Seite 108566-1-108566-9
DOI: 10.1016/j.ymgme.2024.108566
Posset, Roland: Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Sandesh C. S. Nagamani, Andrea L. Gropman, Friederik… , March 2024. - 9 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108112, Seite 1-9
DOI: 10.1016/j.ymgme.2023.108112
Posset, Roland: Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Svenja Scharre, Jürgen G. Okun, Andrea L. Gropman, S… , April 2024. - 12 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 4 vom: Apr., Artikel-ID 101039, Seite 1-12
DOI: 10.1016/j.gim.2023.101039
Seidl, Marie: ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae / Marie J. Seidl, Svenja Scharre, Roland Posset, Ann-Catrin Druck, Friederike Epp, Jürgen G. Okun, Bia… , January 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 1 vom: Jan., Artikel-ID 108097, Seite 1-11
DOI: 10.1016/j.ymgme.2023.108097
Posset, Roland: The challenge of understanding and predicting phenotypic diversity in urea cycle disorders / Roland Posset, Matthias Zielonka, Florian Gleich, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker,… , November 2023. - 10 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 46(2023), 6 vom: Nov., Seite 1007-1016
DOI: 10.1002/jimd.12678
Himmelreich, Nastassja: Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature / Nastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, Andreas Hüllen, Georg Friedrich Hoffmann,… , 26 June 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 136(2022), 4, Seite 274-281
DOI: 10.1016/j.ymgme.2022.06.005
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
Zielonka, Matthias: Pathomechanismen und Biomarker als Grundlage für innovative Therapieansätze und frühe klinische Prädiktion am Beispiel der Harnstoffzyklusstörungen und lysosomalen Speichererkrankungen / vorgelegt von Dr. med. Matthias Zielonka. -
Heidelberg, 2021. - 1 Band (verschiedene Seitenzählungen) : Illustrationen, Diagramme
Garbade, Sven: Quantitative retrospective natural history modeling for orphan drug development / Sven F. Garbade, Matthias Zielonka, Shoko Komatzsuzaki, Stefan Kölker, Georg F. Hoffmann, Katrin Hin… , 2021. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 99-109
DOI: 10.1002/jimd.12304
Garbade, Sven: FDA orphan drug designations for lysosomal storage disorders : a cross sectional analysis / Sven F. Garbade PhD, Matthias Zielonka MD, Konstantin Mechler MD, Stefan Kölker MD, Georg F. Hoffman… , January 14, 2020. - 29 S.
In: medRxiv. (2020), Artikel-ID 2020.01.05.20016568, Seite 1-29
DOI: 10.1101/2020.01.05.20016568
Görlacher, Marlen: Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects / Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca… , 7 November 2020. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 25(2020) vom: Dez., Artikel-ID 100673, Seite 1-6
DOI: 10.1016/j.ymgmr.2020.100673
Zielonka, Matthias: From genotype to phenotype : early prediction of disease severity in argininosuccinic aciduria / Matthias Zielonka, Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C. S. Nagamani, Andrea L… , 15 January 2020. - 15 S.
In: Human mutation, ISSN 1098-1004. 41(2020), 5, Seite 946-960
DOI: 10.1002/humu.23983
Posset, Roland: Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders / Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagama… , 7 November 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 131(2020), 4, Seite 390-397
DOI: 10.1016/j.ymgme.2020.10.013
Posset, Roland: Long-term effects of medical management on growth and weight in individuals with urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Andrea L. Gropman, Pascale de Lonlay, Georg F. Hoffm… , 20 July 2020. - 13 S.
In: Scientific reports, ISSN 2045-2322. 10(2020,1) Artikel-Nummer 11948, 13 Seiten
DOI: 10.1038/s41598-020-67496-3
Probst, Joris: Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae / Joris Probst, Stefan Kölker, Jürgen G. Okun, Amrish Kumar, Eduard Gursky, Roland Posset, Georg F. Ho… , 25 April 2020. - 12 S.
In: Experimental neurology, ISSN 1090-2430. 331(2020) Artikel-Nummer 113330, 12 Seiten
DOI: 10.1016/j.expneurol.2020.113330
Garbade, Sven: FDA orphan drug designations for lysosomal storage disorders : a cross-sectional analysis / Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F. Hoffmann, Christian … , April 8, 2020
In: PLOS ONE, ISSN 1932-6203. 15(2020,4) Artikel-Nummer e0230898, 12 Seiten
DOI: 10.1371/journal.pone.0230898
Zielonka, Matthias: Early prediction of phenotypic severity in Citrullinemia Type 1 / Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C.S. Nagamani, Andr… , 30 August 2019. - 14 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 6(2019), 9, Seite 1858-1871
DOI: 10.1002/acn3.50886
Himmelreich, Nastassja: Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus / Nastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Anna-Marlen Hutter, Lars… , 08 May 2019. - 14 S.
In: Human mutation, ISSN 1098-1004. 40(2019), 7, Seite 938-951
DOI: 10.1002/humu.23764
Posset, Roland: Impact of diagnosis and therapy on cognitive function in urea cycle disorders / Roland Posset, Andrea L. Gropman, Sandesh C. S. Nagamani, Lindsay C. Burrage, Jirair K. Bedoyan, Der… , July 2019. - 13 S.
In: Annals of neurology, ISSN 1531-8249. 86(2019), 1, Seite 116-128
DOI: 10.1002/ana.25492
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
Zielonka, Matthias: Ultra-orphan lysosomal storage diseases : a cross-sectional quantitative analysis of the natural history of alpha-mannosidosis / Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries, 20 June 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 5, Seite 975-983
DOI: 10.1002/jimd.12138
Ries, Markus: Disasters in Germany and France : an analysis of the emergency events database from a pediatric perspective / Markus Ries, MD, PhD; Matthias Zielonka, MD; Noah Ries; Thomas Breil, MD; Sven Garbade, PhD; Konstan… , 20 June 2019. - 8 S.
In: Disaster medicine and public health preparedness, ISSN 1938-744X. 13(2019), 5-6, Seite 958-965
DOI: 10.1017/dmp.2019.24
Komatsuzaki, Shoko: Clinical characteristics of 248 patients with Krabbe disease : quantitative natural history modeling based on published cases / Shoko Komatsuzaki MD, PhD, Matthias Zielonka MD, William K. Mountford PhD, Stefan Kölker MD, Georg F… , 22 March 2019
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 10, Seite 2208-2215
DOI: 10.1038/s41436-019-0480-7
Zielonka, Matthias: Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation / Matthias Zielonka, Joris Probst, Matthias Carl, Georg Friedrich Hoffmann, Stefan Kölker, Jürgen Günt… , 14 January 2019. - 9 S.
In: Experimental neurology, ISSN 1090-2430. 314(2019), Seite 91-99
DOI: 10.1016/j.expneurol.2019.01.008
Zielonka, Matthias: A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease : an ultra-orphan multisystemic lysosomal storage disorder / Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD & Markus Ries MD, … , 2019. - 6 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 2, Seite 347-352
DOI: 10.1038/s41436-018-0051-3
Meyburg, Jochen: Cognitive and behavioral consequences of pediatric delirium : a pilot study / Jochen Meyburg, Markus Ries, Matthias Zielonka, Karin Koch, Anja Sander, Rebecca von Haken, Gitta Re… , 01.10.2018. - 7 S.
In: Pediatric critical care medicine, ISSN 1947-3893. 19(2018), 10, Seite e531-e537
DOI: 10.1097/PCC.0000000000001686
Zielonka, Matthias: Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase / Matthias Zielonka, Maximilian Breuer, Jürgen Günther Okun, Matthias Carl, Georg Friedrich Hoffmann, … , September 10, 2018. - 24 S.
In: PLOS ONE, ISSN 1932-6203. 13(2018), 9, Artikel-ID e0203707
DOI: 10.1371/journal.pone.0203707
Zielonka, Matthias: A cross-sectional quantitative analysis of the natural history of Farber disease : an ultra-orphan condition with rheumatologic and neurological cardinal disease features / Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann & Markus Ries, 2018. - 7 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 5, Seite 524-530
DOI: 10.1038/gim.2017.133
Zielonka, Matthias: Quantitative clinical characteristics of 53 patients with MPS VII : a cross-sectional analysis / Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD & Markus Ries MD, … , 06 April 2017. - 6 S.
In: Genetics in medicine, ISSN 1530-0366. 19(2017), 9, Seite 983-988
DOI: 10.1038/gim.2017.10
Zielonka, Matthias: Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis / Matthias Zielonka, MD, Sven F. Garbade, PhD, Stefan Kölker, MD, Georg F. Hoffmann, MD and Markus Rie… , 2018. - 1 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 4, Seite 474
DOI: 10.1038/gim.2017.87
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
Zielonka, Matthias: Severe acute subdural hemorrhage in a patient with glutaric aciduria type I after minor head trauma : a case report / Matthias Zielonka, Katrin Braun, Andreas Bengel, Angelika Seitz, Stefan Kölker, Nikolas Boy. - 5 S.
In: Journal of child neurology, ISSN 1708-8283. 30(2015), 8, S. 1065-1069
DOI: 10.1177/0883073814541479
Zielonka, Matthias: The IκB kinase complex is required for plexin-B-mediated activation of RhoA / Matthias Zielonka, Ramesh K. Krishnan, Jakub M. Swiercz, Stefan Offermanns, August 19, 2014. - 13 S.
In: PLOS ONE, ISSN 1932-6203. 9(2014,8) Artikel-Nummer e105661, 13 Seiten
DOI: 10.1371/journal.pone.0105661
Zielonka, Matthias: Expressions- und Signaltransduktionsanalyse der B-Plexine unter Verwendung eines RNA-Interferenz Hochdurchsatzverfahrens / vorgelegt von Matthias Zielonka, 2013 [ersch.] 2014. - VIII, 142 Bl. : Ill., graph. Darst.
Zielonka, Matthias: A systematic expression analysis implicates Plexin-B2 and its ligand Sema4C in the regulation of the vascular and endocrine system / Matthias Zielonka, Jingjing Xia, Roland H. Friedel, Stefan Offermanns, Thomas Worzfeld, 10 September 2010. - 10 S.
In: Experimental cell research, ISSN 1090-2422. 316(2010), 15 vom: Sept., Seite 2477-2486
DOI: 10.1016/j.yexcr.2010.05.007

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