Works matching AU Rutsch, Frank

Results: 58
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    Case 1: An infant with heart failure (Case Presentation).

    Published in:
    Acta Paediatrica, 2009, v. 98, n. 1, p. 5, doi. 10.1111/j.1651-2227.2008.01012.x
    By:
    • Ferrero, Giovanni Battista;
    • Nitschke, Yvonne;
    • Pucci, Angela;
    • Barattia, Giacomo;
    • Baldassarre, Giuseppina;
    • Rutsch, Frank
    Publication type:
    Article
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    SAMHD1 restricts HIV-1 infection in resting CD4<sup>+</sup> T cells.

    Published in:
    Nature Medicine, 2012, v. 18, n. 11, p. 1682, doi. 10.1038/nm.2964
    By:
    • Baldauf, Hanna-Mari;
    • Pan, Xiaoyu;
    • Erikson, Elina;
    • Schmidt, Sarah;
    • Daddacha, Waaqo;
    • Burggraf, Manja;
    • Schenkova, Kristina;
    • Ambiel, Ina;
    • Wabnitz, Guido;
    • Gramberg, Thomas;
    • Panitz, Sylvia;
    • Flory, Egbert;
    • Landau, Nathaniel R;
    • Sertel, Serkan;
    • Rutsch, Frank;
    • Lasitschka, Felix;
    • Kim, Baek;
    • König, Renate;
    • Fackler, Oliver T;
    • Keppler, Oliver T
    Publication type:
    Article
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    Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2009, v. 41, n. 2, p. 234, doi. 10.1038/ng.294
    By:
    • Rutsch, Frank;
    • Gailus, Susann;
    • Miousse, Isabelle R.;
    • Suormala, Terttu;
    • Sagné, Corinne;
    • Toliat, Mohammad Reza;
    • Nürnberg, Gudrun;
    • Wittkampf, Tanja;
    • Buers, Insa;
    • Sharifi, Azita;
    • Stucki, Martin;
    • Becker, Christian;
    • Baumgartner, Matthias;
    • Robenek, Horst;
    • Marquardt, Thorsten;
    • Höhne, Wolfgang;
    • Gasnier, Bruno;
    • Rosenblatt, David S.;
    • Fowler, Brian;
    • Nürnberg, Peter
    Publication type:
    Article
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    Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

    Published in:
    Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221
    By:
    • Rutsch, Frank;
    • Ruf, Nico;
    • Vaingankar, Sucheta;
    • Toliat, Mohammed R.;
    • Suk, Anita;
    • Höhne, Wolfgang;
    • Schauer, Galen;
    • Lehmann, Mandy;
    • Roscioli, Tony;
    • Schnabel, Dirk;
    • Epplen, Jörg T.;
    • Knisely, Alex;
    • Superti-Furga, Andrea;
    • McGill, James;
    • Filippone, Marco;
    • Sinaiko, Alan R.;
    • Vallance, Hillary;
    • Hinrichs, Bernd;
    • Smith, Wendy
    Publication type:
    Article
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    The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
    By:
    • Märtner, E. M. Charlotte;
    • Thimm, Eva;
    • Guder, Philipp;
    • Schiergens, Katharina A.;
    • Rutsch, Frank;
    • Roloff, Sylvia;
    • Marquardt, Iris;
    • Das, Anibh M.;
    • Freisinger, Peter;
    • Grünert, Sarah C.;
    • Krämer, Johannes;
    • Baumgartner, Matthias R.;
    • Beblo, Skadi;
    • Haase, Claudia;
    • Dieckmann, Andrea;
    • Lindner, Martin;
    • Näke, Andrea;
    • Hoffmann, Georg F.;
    • Mühlhausen, Chris;
    • Walter, Magdalena
    Publication type:
    Article
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    Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

    Published in:
    2021
    By:
    • Märtner, E. M. Charlotte;
    • Thimm, Eva;
    • Guder, Philipp;
    • Schiergens, Katharina A.;
    • Rutsch, Frank;
    • Roloff, Sylvia;
    • Marquardt, Iris;
    • Das, Anibh M.;
    • Freisinger, Peter;
    • Grünert, Sarah C.;
    • Krämer, Johannes;
    • Baumgartner, Matthias R.;
    • Beblo, Skadi;
    • Haase, Claudia;
    • Dieckmann, Andrea;
    • Lindner, Martin;
    • Näke, Andrea;
    • Hoffmann, Georg F.;
    • Mühlhausen, Chris;
    • Walter, Magdalena
    Publication type:
    Correction Notice
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    The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
    By:
    • Märtner, E. M. Charlotte;
    • Thimm, Eva;
    • Guder, Philipp;
    • Schiergens, Katharina A.;
    • Rutsch, Frank;
    • Roloff, Sylvia;
    • Marquardt, Iris;
    • Das, Anibh M.;
    • Freisinger, Peter;
    • Grünert, Sarah C.;
    • Krämer, Johannes;
    • Baumgartner, Matthias R.;
    • Beblo, Skadi;
    • Haase, Claudia;
    • Dieckmann, Andrea;
    • Lindner, Martin;
    • Näke, Andrea;
    • Hoffmann, Georg F.;
    • Mühlhausen, Chris;
    • Walter, Magdalena
    Publication type:
    Article
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    Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
    By:
    • Angius, Andrea;
    • Uva, Paolo;
    • Oppo, Manuela;
    • Buers, Insa;
    • Persico, Ivana;
    • Onano, Stefano;
    • Cuccuru, Gianmauro;
    • Van Allen, Margot I.;
    • Hulait, Gurdip;
    • Aubertin, Gudrun;
    • Muntoni, Francesco;
    • Fry, Andrew E.;
    • Annerén, Göran;
    • Stattin, Eva‐Lena;
    • Palomares‐Bralo, María;
    • Santos‐Simarro, Fernando;
    • Cucca, Francesco;
    • Crisponi, Giangiorgio;
    • Rutsch, Frank;
    • Crisponi, Laura
    Publication type:
    Article
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    Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 994, doi. 10.1002/ajmg.a.61523
    By:
    • Ayoub, Sandy;
    • Ghali, Neeti;
    • Angwin, Chloe;
    • Baker, Duncan;
    • Baffini, Stella;
    • Brady, Angela F.;
    • Giovannucci Uzielli, Maria Luisa;
    • Giunta, Cecilia;
    • Johnson, Diana S.;
    • Kosho, Tomoki;
    • Neas, Katherine;
    • Pope, F. Michael;
    • Rutsch, Frank;
    • Scarselli, Gloria;
    • Sobey, Glenda;
    • Vandersteen, Anthony;
    • Dijk, Fleur S.
    Publication type:
    Article
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    Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

    Published in:
    2021
    By:
    • Muntau, Ania C.;
    • Burlina, Alberto;
    • Eyskens, François;
    • Freisinger, Peter;
    • Leuzzi, Vincenzo;
    • Sivri, Hatice Serap;
    • Gramer, Gwendolyn;
    • Pazdírková, Renata;
    • Cleary, Maureen;
    • Lotz-Havla, Amelia S.;
    • Lane, Paul;
    • Alvarez, Ignacio;
    • Rutsch, Frank
    Publication type:
    journal article
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    Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.

    Published in:
    2017
    By:
    • Muntau, Ania C.;
    • Burlina, Alberto;
    • Eyskens, François;
    • Freisinger, Peter;
    • De Laet, Corinne;
    • Leuzzi, Vincenzo;
    • Rutsch, Frank;
    • Sivri, H. Serap;
    • Vijay, Suresh;
    • Bal, Milva Orquidea;
    • Gramer, Gwendolyn;
    • Pazdírková, Renata;
    • Cleary, Maureen;
    • Lotz-Havla, Amelie S.;
    • Munafo, Alain;
    • Mould, Diane R.;
    • Moreau-Stucker, Flavie;
    • Rogoff, Daniela
    Publication type:
    journal article
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    47 patients with FLNA associated periventricular nodular heterotopia.

    Published in:
    2015
    By:
    • Lange, Max;
    • Kasper, Burkhard;
    • Bohring, Axel;
    • Rutsch, Frank;
    • Kluger, Gerhard;
    • Hoffjan, Sabine;
    • Spranger, Stephanie;
    • Behnecke, Anne;
    • Ferbert, Andreas;
    • Hahn, Andreas;
    • Oehl-Jaschkowitz, Barbara;
    • Graul-Neumann, Luitgard;
    • Diepold, Katharina;
    • Schreyer, Isolde;
    • Bernhard, Matthias K.;
    • Mueller, Franziska;
    • Siebers-Renelt, Ulrike;
    • Beleza-Meireles, Ana;
    • Uyanik, Goekhan;
    • Janssens, Sandra
    Publication type:
    journal article
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    Npp1 promotes atherosclerosis in ApoE knockout mice.

    Published in:
    Journal of Cellular & Molecular Medicine, 2011, v. 15, n. 11, p. 2273, doi. 10.1111/j.1582-4934.2011.01327.x
    By:
    • Nitschke, Yvonne;
    • Weissen-Plenz, Gabriele;
    • Terkeltaub, Robert;
    • Rutsch, Frank
    Publication type:
    Article
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    Long‐term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12796
    By:
    • Feillet, François;
    • Arnoux, Jean‐Baptiste;
    • Delgado, María Bueno;
    • Burlina, Alberto;
    • Chabrol, Brigitte;
    • Kucuksayrac, Ece;
    • Lagler, Florian B.;
    • Muntau, Ania C.;
    • Olsson, David;
    • Paci, Sabrina;
    • Rutsch, Frank;
    • van Spronsen, Francjan J.
    Publication type:
    Article
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    Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 21, doi. 10.1007/s10545-013-9624-0
    By:
    • Rüegger, Corinne;
    • Lindner, Martin;
    • Ballhausen, Diana;
    • Baumgartner, Matthias;
    • Beblo, Skadi;
    • Das, Anibh;
    • Gautschi, Matthias;
    • Glahn, Esther;
    • Grünert, Sarah;
    • Hennermann, Julia;
    • Hochuli, Michel;
    • Huemer, Martina;
    • Karall, Daniela;
    • Kölker, Stefan;
    • Lachmann, Robin;
    • Lotz-Havla, Amelie;
    • Möslinger, Dorothea;
    • Nuoffer, Jean-Marc;
    • Plecko, Barbara;
    • Rutsch, Frank
    Publication type:
    Article
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    Inborn error of amino acid synthesis: Human glutamine synthetase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2006, v. 29, n. 2/3, p. 352, doi. 10.1007/s10545-006-0256-5
    By:
    • Häberle, Johannes;
    • Görg, Boris;
    • Toutain, Annick;
    • Rutsch, Frank;
    • Benoist, Jean-François;
    • Gelot, Antoinette;
    • Suc, Annie-Laure;
    • Koch, Hans;
    • Schliess, Freimut;
    • Häussinger, Dieter
    Publication type:
    Article
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    β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

    Published in:
    Human Molecular Genetics, 2004, v. 13, n. 22, p. 2793, doi. 10.1093/hmg/ddh303
    By:
    • van Kuilenburg, André B.P.;
    • Meinsma, Rutger;
    • Beke, Eva;
    • Assmann, Birgit;
    • Ribes, Antonia;
    • Lorente, Isabel;
    • Busch, Rebekka;
    • Mayatepek, Ertan;
    • Abeling, Nico G.G.M.;
    • van Cruchten, Arno;
    • Stroomer, Alida E.M.;
    • van Lenthe, Henk;
    • Zoetekouw, Lida;
    • Kulik, Willem;
    • Hoffmann, Georg F.;
    • Voit, Thomas;
    • Wevers, Ron A.;
    • Rutsch, Frank;
    • van Gennip, Albert H.
    Publication type:
    Article
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