Bilaketaren emaitzak - Jörn Oliver Sass

  • Erakusten 1 - 20 emaitzak -- 20
Findu emaitzak
  1. 1
    Biomarkers for drug development in propionic and methylmalonic acidemias

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

    Argitaratua 2022
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2006
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2003
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2024
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  5. 5
    Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

    Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis nork 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

    Argitaratua 2012
    Testu osoa Testu osoa
    Carta
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2006
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2004
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  8. 8
    Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria

    Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria nork 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

    Argitaratua 2015
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  9. 9
    mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells

    mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells nork 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

    Argitaratua 2016
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  10. 10
    Genetic basis of hyperlysinemia

    Genetic basis of hyperlysinemia nork 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

    Argitaratua 2013
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2021
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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... nork 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

    Argitaratua 2009
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  13. 13
    3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients

    3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients nork 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

    Argitaratua 2013
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2020
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2014
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  16. 16
    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

    Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients nork 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

    Argitaratua 2010
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2017
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2010
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2013
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  20. 20
    Propionic acidemia: neonatal versus selective metabolic screening

    Propionic acidemia: neonatal versus selective metabolic screening nork 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

    Argitaratua 2011
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: