Works matching AU Kölker, Stefan

Results: 133
    1

    Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70035
    By:
    • Hammann, Nicole;
    • Staufner, Christian;
    • Schlieben, Lea Dewi;
    • Dezsőfi‐Gottl, Antal;
    • Feichtinger, René G.;
    • Häberle, Johannes;
    • Junge, Norman;
    • Konstantopoulou, Vassiliki;
    • Kopajtich, Robert;
    • McLin, Valérie;
    • Rymen, Daisy;
    • Slavetinsky, Christoph;
    • Sturm, Ekkehard;
    • Mayr, Johannes A.;
    • Wagner, Matias;
    • Kölker, Stefan;
    • Prokisch, Holger;
    • Hoffmann, Georg F.;
    • Lenz, Dominic
    Publication type:
    Article
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    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
    By:
    • Zielonka, Matthias;
    • Garbade, Sven F.;
    • Gleich, Florian;
    • Okun, Jürgen G.;
    • Nagamani, Sandesh C. S.;
    • Gropman, Andrea L.;
    • Hoffmann, Georg F.;
    • Kölker, Stefan;
    • Posset, Roland;
    • Ah Mew, Nicholas;
    • Burrage, Lindsay C.;
    • Schulze, Andreas;
    • Berry, Susan A.;
    • Baumgartner, Matthias R.;
    • Diaz, George A.;
    • Merritt, J. Lawrence;
    • Bedoyan, Jirair K.;
    • Wong, Derek;
    • Harding, Cary O.;
    • Yudkoff, Marc
    Publication type:
    Article
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    Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 62, doi. 10.3390/ijns10030062
    By:
    • Schnabel-Besson, Elena;
    • Mütze, Ulrike;
    • Dikow, Nicola;
    • Hörster, Friederike;
    • Morath, Marina A.;
    • Alex, Karla;
    • Brennenstuhl, Heiko;
    • Settegast, Sascha;
    • Okun, Jürgen G.;
    • Schaaf, Christian P.;
    • Winkler, Eva C.;
    • Kölker, Stefan
    Publication type:
    Article
    6

    Newborn Screening in a Pandemic—Lessons Learned.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 21, doi. 10.3390/ijns9020021
    By:
    • Mlinaric, Matej;
    • Bonham, James R.;
    • Kožich, Viktor;
    • Kölker, Stefan;
    • Majek, Ondrej;
    • Battelino, Tadej;
    • Torkar, Ana Drole;
    • Koracin, Vanesa;
    • Perko, Dasa;
    • Remec, Ziga Iztok;
    • Lampret, Barbka Repic;
    • Scarpa, Maurizio;
    • Schielen, Peter C. J. I.;
    • Zetterström, Rolf H.;
    • Groselj, Urh
    Publication type:
    Article
    7

    Towards Achieving Equity and Innovation in Newborn Screening across Europe.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 31, doi. 10.3390/ijns8020031
    By:
    • Sikonja, Jaka;
    • Groselj, Urh;
    • Scarpa, Maurizio;
    • la Marca, Giancarlo;
    • Cheillan, David;
    • Kölker, Stefan;
    • Zetterström, Rolf H.;
    • Kožich, Viktor;
    • Le Cam, Yann;
    • Gumus, Gulcin;
    • Bottarelli, Valentina;
    • van der Burg, Mirjam;
    • Dekkers, Eugenie;
    • Battelino, Tadej;
    • Prevot, Johan;
    • Schielen, Peter C. J. I.;
    • Bonham, James R.
    Publication type:
    Article
    8

    Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668
    By:
    • Scharre, Svenja;
    • Posset, Roland;
    • Garbade, Sven F.;
    • Gleich, Florian;
    • Seidl, Marie J.;
    • Druck, Ann‐Catrin;
    • Okun, Jürgen G.;
    • Gropman, Andrea L.;
    • Nagamani, Sandesh C. S.;
    • Hoffmann, Georg F.;
    • Kölker, Stefan;
    • Zielonka, Matthias;
    • Ah Mew, Nicholas;
    • Baumgartner, Matthias R.;
    • Berry, Gerard T.;
    • Berry, Susan A.;
    • Burrage, Lindsay;
    • Diaz, George A.;
    • Ficicioglu, Can;
    • Kisin, Genya
    Publication type:
    Article
    9

    Early prediction of phenotypic severity in Citrullinemia Type 1.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1858, doi. 10.1002/acn3.50886
    By:
    • Zielonka, Matthias;
    • Kölker, Stefan;
    • Gleich, Florian;
    • Stützenberger, Nicolas;
    • Nagamani, Sandesh C. S.;
    • Gropman, Andrea L.;
    • Hoffmann, Georg F.;
    • Garbade, Sven F.;
    • Posset, Roland
    Publication type:
    Article
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    Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

    Published in:
    2019
    By:
    • Saffari, Afshin;
    • Brösse, Ines;
    • Wiemer-Kruel, Adelheid;
    • Wilken, Bernd;
    • Kreuzaler, Paula;
    • Hahn, Andreas;
    • Bernhard, Matthias K.;
    • van Tilburg, Cornelis M.;
    • Hoffmann, Georg F.;
    • Gorenflo, Matthias;
    • Hethey, Sven;
    • Kaiser, Olaf;
    • Kölker, Stefan;
    • Wagner, Robert;
    • Witt, Olaf;
    • Merkenschlager, Andreas;
    • Möckel, Andreas;
    • Roser, Timo;
    • Schlump, Jan-Ulrich;
    • Serfling, Antje
    Publication type:
    journal article
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    Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 17, p. 2717, doi. 10.1093/hmg/ddad100
    By:
    • Lucienne, Marie;
    • Gerlini, Raffaele;
    • Rathkolb, Birgit;
    • Calzada-Wack, Julia;
    • Forny, Patrick;
    • Wueest, Stephan;
    • Kaech, Andres;
    • Traversi, Florian;
    • Forny, Merima;
    • Bürer, Céline;
    • Aguilar-Pimentel, Antonio;
    • Irmler, Martin;
    • Beckers, Johannes;
    • Sauer, Sven;
    • Kölker, Stefan;
    • Dewulf, Joseph P;
    • Bommer, Guido T;
    • Hoces, Daniel;
    • Gailus-Durner, Valerie;
    • Fuchs, Helmut
    Publication type:
    Article
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    <sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.

    Published in:
    2021
    By:
    • Saffari, Afshin;
    • Cannet, Claire;
    • Blaschek, Astrid;
    • Hahn, Andreas;
    • Hoffmann, Georg F.;
    • Johannsen, Jessika;
    • Kirsten, Romy;
    • Kockaya, Musa;
    • Kölker, Stefan;
    • Müller-Felber, Wolfgang;
    • Roos, Andreas;
    • Schäfer, Hartmut;
    • Schara, Ulrike;
    • Spraul, Manfred;
    • Trefz, Friedrich K.;
    • Vill, Katharina;
    • Wick, Wolfgang;
    • Weiler, Markus;
    • Okun, Jürgen G.;
    • Ziegler, Andreas
    Publication type:
    journal article
    26

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    2019
    By:
    • Vaz, Frédéric M;
    • McDermott, John H;
    • Alders, Mariëlle;
    • Wortmann, Saskia B;
    • Kölker, Stefan;
    • Pras-Raves, Mia L;
    • Vervaart, Martin A T;
    • Lenthe, Henk van;
    • Luyf, Angela C M;
    • Elfrink, Hyung L;
    • Metcalfe, Kay;
    • Cuvertino, Sara;
    • Clayton, Peter E;
    • Yarwood, Rebecca;
    • Lowe, Martin P;
    • Lovell, Simon;
    • Rogers, Richard C;
    • Study, Deciphering Developmental Disorders;
    • Kampen, Antoine H C van;
    • Ruiter, Jos P N
    Publication type:
    journal article
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    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

    Published in:
    2019
    By:
    • Posset, Roland;
    • Gropman, Andrea L.;
    • Nagamani, Sandesh C. S.;
    • Burrage, Lindsay C.;
    • Bedoyan, Jirair K.;
    • Wong, Derek;
    • Berry, Gerard T.;
    • Baumgartner, Matthias R.;
    • Yudkoff, Marc;
    • Zielonka, Matthias;
    • Hoffmann, Georg F.;
    • Burgard, Peter;
    • Schulze, Andreas;
    • McCandless, Shawn E.;
    • Garcia‐Cazorla, Angeles;
    • Seminara, Jennifer;
    • Garbade, Sven F.;
    • Kölker, Stefan;
    • Lee, Brendan;
    • Harding, Cary O.
    Publication type:
    journal article
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    Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.

    Published in:
    PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184897
    By:
    • Monostori, Péter;
    • Klinke, Glynis;
    • Richter, Sylvia;
    • Baráth, Ákos;
    • Fingerhut, Ralph;
    • Baumgartner, Matthias R.;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Gramer, Gwendolyn;
    • Okun, Jürgen G.
    Publication type:
    Article
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    3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 31, doi. 10.1186/1750-1172-7-31
    By:
    • Grünert, Sarah C;
    • Stucki, Martin;
    • Morscher, Raphael J;
    • Suormala, Terttu;
    • Bürer, Celine;
    • Burda, Patricie;
    • Christensen, Ernst;
    • Ficicioglu, Can;
    • Herwig, Jürgen;
    • Kölker, Stefan;
    • Möslinger, Dorothea;
    • Pasquini, Elisabetta;
    • Santer, René;
    • Schwab, K Otfried;
    • Wilcken, Bridget;
    • Fowler, Brian;
    • Yue, Wyatt W;
    • Baumgartner, Matthias R
    Publication type:
    Article
    39

    Use of guidelines improves the neurological outcome in glutaric aciduria type I.

    Published in:
    Annals of Neurology, 2010, v. 68, n. 5, p. 743, doi. 10.1002/ana.22095
    By:
    • Heringer, Jana;
    • Boy, S. P. Nikolas;
    • Ensenauer, Regina;
    • Assmann, Birgit;
    • Zschocke, Johannes;
    • Harting, Inga;
    • Lücke, Thomas;
    • Maier, Esther M.;
    • Mühlhausen, Chris;
    • Haege, Gisela;
    • Hoffmann, Georg F.;
    • Burgard, Peter;
    • Kölker, Stefan
    Publication type:
    Article
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    Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12844
    By:
    • Morris, Andrew A. M.;
    • Sokolová, Jitka;
    • Pavlíková, Markéta;
    • Gleich, Florian;
    • Kölker, Stefan;
    • Dionisi‐Vici, Carlo;
    • Baumgartner, Matthias R.;
    • Hannibal, Luciana;
    • Blom, Henk J.;
    • Huemer, Martina;
    • Kožich, Viktor;
    • Arantes, Rodrigo R.;
    • Blanco, Francisco Arrieta;
    • Baghdasaryan, Anna;
    • Ballhausen, Diana;
    • Blasco‐Alonso, Javier;
    • Brouwers, Martijn;
    • Bueno, María;
    • Burgos, Rosa;
    • Villarroya, Elvira Cañedo
    Publication type:
    Article
    42

    Response to Downie et al.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12837
    By:
    • Betzler, Isabel R.;
    • Hempel, Maja;
    • Mütze, Ulrike;
    • Kölker, Stefan;
    • Winkler, Eva;
    • Dikow, Nicola;
    • Garbade, Sven F.;
    • Schaaf, Christian P.;
    • Brennenstuhl, Heiko
    Publication type:
    Article
    43

    Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12815
    By:
    • Stolwijk, Nina N.;
    • Häberle, Johannes;
    • Huidekoper, Hidde H.;
    • Wagenmakers, Margreet A. E. M.;
    • Hollak, Carla E. M.;
    • Bosch, Annet M.;
    • Möslinger, Dorothea;
    • Nassogne, Marie‐Cecile;
    • Vanlander, Arnaud;
    • Witters, Peter;
    • Jesina, Pavel;
    • Zeman, Jiri;
    • Lund, Allan M.;
    • Feillet, François;
    • Gramer, Gwendolyn;
    • Grünert, Sarah C.;
    • Kölker, Stefan;
    • Opladen, Thomas;
    • Thimm, Eva;
    • Ziagaki, Athanasia
    Publication type:
    Article
    44

    Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12784
    By:
    • Schnabel‐Besson, Elena;
    • Garbade, Sven F.;
    • Gleich, Florian;
    • Grünert, Sarah C.;
    • Krämer, Johannes;
    • Thimm, Eva;
    • Hennermann, Julia B.;
    • Freisinger, Peter;
    • Burgard, Peter;
    • Gramer, Gwendolyn;
    • Morath, Marina A.;
    • Tuncel, A. Tunç;
    • Keßler, Svenja;
    • Hoffmann, Georg F.;
    • Kölker, Stefan;
    • Mütze, Ulrike
    Publication type:
    Article
    45

    MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1028, doi. 10.1002/jimd.12764
    By:
    • Hammann, Nicole;
    • Lenz, Dominic;
    • Bianzano, Alyssa;
    • Husain, Ralf A.;
    • Forman, Eva;
    • Bernstein, Jonathan A.;
    • Dattner, Tal;
    • Engelen, Marc;
    • Hanson‐Kahn, Andrea K.;
    • Isidor, Bertrand;
    • Kotzaeridou, Urania;
    • Tietze, Anna;
    • Trollmann, Regina;
    • Weiß, Claudia;
    • Wolffenbuttel, Bruce H. R.;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Crushell, Ellen;
    • Staufner, Christian;
    • Mohr, Alexander
    Publication type:
    Article
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    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
    By:
    • Reischl‐Hajiabadi, Anna T.;
    • Schnabel, Elena;
    • Gleich, Florian;
    • Mengler, Katharina;
    • Lindner, Martin;
    • Burgard, Peter;
    • Posset, Roland;
    • Lommer‐Steinhoff, Svenja;
    • Grünert, Sarah C.;
    • Thimm, Eva;
    • Freisinger, Peter;
    • Hennermann, Julia B.;
    • Krämer, Johannes;
    • Gramer, Gwendolyn;
    • Lenz, Dominic;
    • Christ, Stine;
    • Hörster, Friederike;
    • Hoffmann, Georg F.;
    • Garbade, Sven F.;
    • Kölker, Stefan
    Publication type:
    Article
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