Risultati della ricerca - Jörn Oliver Sass

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  1. 1
    Biomarkers for drug development in propionic and methylmalonic acidemias

    Biomarkers for drug development in propionic and methylmalonic acidemias di Nicola Longo, Jörn Oliver Sass, Agnieszka Jurecka, Jerry Vockley

    Pubblicazione 2022
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  2. 2
    Comprehensive Detection of Disorders of Purine and Pyrimidine Metabolism by HPLC with Electrospray Ionization Tandem Mass Spectrometry

    Comprehensive Detection of Disorders of Purine and Pyrimidine Metabolism by HPLC with Electrospray Ionization Tandem Mass Spectrometry di S. Hartmann, Jürgen G. Okun, Christiane Schmidt, Claus‐Dieter Langhans, Sven F. Garbade, Peter Burgard, Dorothea Haas, Jörn Oliver Sass, William L. Nyhan, Georg F. Hoffmann

    Pubblicazione 2006
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  3. 3
    2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

    2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene di Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, Marinus Durán, Bwee Tien Poll‐The, Johannes Zschocke, Regina Ensenauer, W. Lehnert, Jörn Oliver Sass, Wolfgang Sperl, Jennifer Wanders

    Pubblicazione 2003
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  4. 4
    Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

    Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies di Bernd Schwahn, Francjan J. van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Günter Schwarz, Flora Y. Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte M. A. Lubout

    Pubblicazione 2024
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  5. 5
    Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

    Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis di Carsten Speckmann, Carla Neumann, Stephan Borte, Giancarlo la Marca, Jörn Oliver Sass, Elisabeth Wiech, Paul Fisch, Klaus Schwarz, B. Buchholz, Michael Schlesier, Kerstin Felgentreff, Bodo Grimbacher, Inés Santisteban, Pawan Bali, Michael S. Hershfield, Stephan Ehl

    Pubblicazione 2012
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  6. 6
    Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

    Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism di Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo F. H. Engelke, Judit Horváth, Manfred Fliegauf, Niki T. Loges, Susanne Schweitzer‐Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti‐Furga, Ron A. Wevers, Heymut Omran

    Pubblicazione 2006
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  7. 7
    A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

    A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening di Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah C. Grünert, Hans‐Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern

    Pubblicazione 2004
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  8. 8
    Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria

    Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria di Jacob Hagen, Heleen te Brinke, Ronald J. A. Wanders, Alida C. Knegt, Esmée Oussoren, A. Jeannette M. Hoogeboom, George J. G. Ruijter, Daniel M. Becker, Karl Otfried Schwab, Ingo Franke, Marinus Durán, Hans R. Waterham, Jörn Oliver Sass, Sander M. Houten

    Pubblicazione 2015
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  9. 9
    mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells

    mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells di Florian Grahammer, Suresh Krishna Ramakrishnan, Markus M. Rinschen, Alexey Larionov, Maryam Syed, Hazim Khatib, Malte Roerden, Jörn Oliver Sass, Martin Helmstaedter, Dorothea Osenberg, Lucas Kühne, Oliver Kretz, Nicola Wanner, François Jouret, Thomas Benzing, Ferruh Artunç, Tobias B. Huber, Franziska Theilig

    Pubblicazione 2016
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  10. 10
    Genetic basis of hyperlysinemia

    Genetic basis of hyperlysinemia di Sander M. Houten, Heleen te Brinke, Simone Denis, Jos P.N. Ruiter, Alida C. Knegt, J. B. de Klerk, Persephone Augoustides‐Savvopoulou, Johannes Häberle, Matthias R. Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll‐The, Ronald J. A. Wanders, Marinus Durán

    Pubblicazione 2013
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  11. 11
    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

    Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision di Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi‐Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grünewald, Göknur Haliloğlu, Michel Hochuli, Tomáš Honzík, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl‐Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner

    Pubblicazione 2021
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  12. 12
    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p1... di André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Raoul C. M. Hennekam, J.M.N. Hoovers, Christine de Die‐Smulders, Christian Weber, Andrea Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B. Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M. Estela Rubio‐Gozalbo

    Pubblicazione 2009
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  13. 13
    3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients

    3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients di Saskia B. Wortmann, Leo A. J. Kluijtmans, Richard J. Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P. van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjærg, Maaike C. de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S. Alkuraya, Izelle Smuts, Carolus J. Reinecke, Francois H. van der Westhuizen, David R. Thorburn, Jan Smeitink, Éva Morava, Ron A. Wevers

    Pubblicazione 2013
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  14. 14
    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective di Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès‐Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah C. Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock Hock Ngu, M. Mar Rovira‐Remisa, Jörn Oliver Sass, Jolanta Sykut‐Cegielska, Albina Tummolo, Lambertus P. van den Heuvel

    Pubblicazione 2020
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  15. 15
    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia di Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

    Pubblicazione 2014
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  16. 16
    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients di André B. P. Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean‐François Benoist, Birgit Assmann, Susanne Schubert‐Bast, Georg F. Hoffmann, Marinus Durán, Maaike C. de Vries, G Kurlemann, François Eyskens, Lawrence Greed, Jörn Oliver Sass, Karl Otfried Schwab, A Sewell, John H. Walter, Andreas Hahn, Lida Zoetekouw, Antònia Ribes, Suzanne Lind, Raoul C. M. Hennekam

    Pubblicazione 2010
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  17. 17
    Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

    Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis di Arjan Pol, G. Herma Renkema, Albert Tangerman, E. G. Winkel, Udo F. H. Engelke, Arjan P.M. de Brouwer, K. C. Kent Lloyd, Renee Araiza, Lambert van den Heuvel, Heymut Omran, Heike Olbrich, Marijn Oude Elberink, Christian Gilissen, Richard J. Rodenburg, Jörn Oliver Sass, Karl Otfried Schwab, Hendrik Schäfer, Hanka Venselaar, J. Silvia Sequeira, Huub J. M. Op den Camp, Ron A. Wevers

    Pubblicazione 2017
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  18. 18
    A non‐enzymatic function of 17β‐hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

    A non‐enzymatic function of 17β‐hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival di Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, Sven W. Sauer, Zdenka Djuric, Cordula Rumig, Nicole I. Wolf, Jürgen G. Okun, Stefan Kölker, Heinz Schwarz, Christine Fischer, Beate Grziwa, Heiko Runz, Astrid Nümann, N. Shafqat, K.L. Kavanagh, Günter J. Hämmerling, Ronald J. A. Wanders, Julian Hamilton‐Shield, U. Wendel, David M. Stern, Peter P. Nawroth, Georg F. Hoffmann, Claus R. Bartram, Bernd Arnold, Angelika Bierhaus, Udo Oppermann, Herbert Steinbeißer, Johannes Zschocke

    Pubblicazione 2010
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  19. 19
    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients di Sarah C. Grünert, S. Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meißner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner‐Krainz, Daniela Karall, Claudia M. Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl‐Bürgi, A. van Teeffelen‐Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti‐Furga, Karl Otfried Schwab, Jörn Oliver Sass

    Pubblicazione 2013
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  20. 20
    Propionic acidemia: neonatal versus selective metabolic screening

    Propionic acidemia: neonatal versus selective metabolic screening di Sarah C. Grünert, S. Müllerleile, L. de Silva, M. Barth, Melanie Walter, Walter K.K. Ho, Thomas Meißner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner‐Krainz, Daniela Karall, Claudia M. Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi Beblo, Hans‐Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl‐Bürgi, A. van Teeffelen‐Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti‐Furga, Karl Otfried Schwab, Jörn Oliver Sass

    Pubblicazione 2011
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