Výsledky vyhledávání - Ina Knerr

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  1. 1
    Advances and challenges in the treatment of branched‐chain amino/keto acid metabolic defects

    Advances and challenges in the treatment of branched‐chain amino/keto acid metabolic defects Autor Ina Knerr, Natalie Weinhold, Jerry Vockley, K. Michael Gibson

    Vydáno 2011
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  2. 2
    The ‘accelerator hypothesis’: relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus

    The ‘accelerator hypothesis’: relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes... Autor Ina Knerr, Johannes Wolf, Thomas Reinehr, Rainer Stachow, M. Grabert, Edith Schober, Wolfgang Rascher, Reinhard W. Holl

    Vydáno 2005
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  3. 3
    Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders

    Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders Autor Fiona Boyle, G.L. Lynch, Clare M. Reynolds, Adam Green, Gemma Parr, Caoimhe Howard, Ina Knerr, Jane Rice

    Vydáno 2024
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  4. 4
    Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditions

    Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditions Autor Ina Knerr, Steffen Schubert, Christina Wich, Kerstin Amann, Thomas Aigner, Tina Vogler, Ronny Jung, Jörg Dötsch, Wolfgang Rascher, Said Hashemolhosseini

    Vydáno 2005
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  5. 5
    Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

    Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men Autor Phillip L. Pearl, K. Michael Gibson, Miguel A. Cortez, Yingli Wu, O. Carter Snead, Ina Knerr, K. Forester, J. M. Pettiford, C. Jakobs, William H. Theodore

    Vydáno 2009
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  6. 6
    Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

    Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS Autor Jillian P. Casey, Suzanne Slattery, Melanie Cotter, Ahmad Monavari, Ina Knerr, Joanne Hughes, Eileen P. Treacy, D. Devaney, Michael McDermott, Eoghan Laffan, Derek A. Wong, Sally Ann Lynch, Billy Bourke, Ellen Crushell

    Vydáno 2015
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  7. 7
    Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

    Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis Autor Ashwini Maratha, Henning Stöckmann, Karen P. Coss, M. Estela Rubio‐Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, K Stephens, Peter Doran, Pauline M. Rudd, Eileen P. Treacy

    Vydáno 2016
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  8. 8
    Fertility in adult women with classic galactosemia and primary ovarian insufficiency

    Fertility in adult women with classic galactosemia and primary ovarian insufficiency Autor Britt van Erven, Gerard T. Berry, David Cassiman, Geraldine Connolly, María Forga, Matthias Gautschi, Cynthia S. Gubbels, Carla E. M. Hollak, Mirian C. H. Janssen, Ina Knerr, Philippe Labrune, Janneke G. Langendonk, Katrin Õunap, Abel Thijs, Rein Vos, Saskia B. Wortmann, M. Estela Rubio‐Gozalbo

    Vydáno 2017
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  9. 9
    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop

    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop Autor Ute Spiekerkoetter, Martin Lindner, René Santer, Marissa Grotzke, Matthias R. Baumgartner, Hansjosef Boehles, Anibh M. Das, Claudia M. Haase, Julia B. Hennermann, Daniela Karall, H. de Klerk, Ina Knerr, Hans-Georg Koch, Barbara Plecko, Wulf Röschinger, Karl Otfried Schwab, D. Scheible, Frits A. Wijburg, Johannes Zschocke, Ertan Mayatepek, U. Wendel

    Vydáno 2009
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  10. 10
    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 Autor 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

    Vydáno 2020
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  11. 11
    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up Autor Lindsey Welling, Laurie Bernstein, Gerard T. Berry, Alberto Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, P. A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio‐Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch

    Vydáno 2016
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  12. 12
    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients Autor 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

    Vydáno 2013
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  13. 13
    Propionic acidemia: neonatal versus selective metabolic screening

    Propionic acidemia: neonatal versus selective metabolic screening Autor 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

    Vydáno 2011
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  14. 14
    Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

    Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients Autor Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoğlu, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, J. Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong-Hon Kang, Masashi Mizuguchi, Bruce A. Barshop, Shohei Fuchinoue, Sara Seneca, Susan Zeesman, Ina Knerr, Margarita Rodés, Pornswan Wasant, Ichiro Yoshida, Linda De Meırleır, Md. Abdul Jalil, Laila Begum, Masahisa Horiuchi, Nobuhiko Katunuma, Shiro Nakagawa, Takeyori Saheki

    Vydáno 2003
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  15. 15
    A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the <scp>S135L</scp> (c.<scp>404C</scp> &gt; T) variant of <scp><i>GALT</i></scp>

    A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the <scp>S135L</scp> (c.<scp>404C</scp> &gt; T) variant of <scp><i>GALT</i></scp> Autor Quinton S. Katler, Karolina M. Stępień, Nathan Paull, S. G. Patel, Michael W. W. Adams, Mehmet Cihan Balcı, Gerard T. Berry, Annet M. Bosch, Angela DeLaO, Didem Demirbas, Julianna Edman, Can Fıçıcıoğlu, Mélanie Le Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A. Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M. Estela Rubio‐Gozalbo, Michael Saad‐Naguib, Sabine Scholl‐Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L. Fridovich‐Keil

    Vydáno 2022
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  16. 16
    Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Brain function in classic galactosemia, a galactosemia network (GalNet) members review Autor Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C.G.J. Brouwers, Alberto Burlina, David Cassiman, David Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grünewald, Sandra D.K. Kingma, Ina Knerr, Elisa Leão Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel Rivera, Sabine Scholl‐Bürgi, Ida Vanessa Döederlein Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stępień, Eileen P. Treacy, Susan E. Waisbren, Gerard T. Berry, M. Estela Rubio‐Gozalbo

    Vydáno 2024
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  17. 17
    The natural history of classic galactosemia: lessons from the GalNet registry

    The natural history of classic galactosemia: lessons from the GalNet registry Autor M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch, Birutė Burnytė, Ana I. Coelho, David Cassiman, María L. Couce, Charlotte Dawson, Didem Demirbas, Terry G. J. Derks, François Eyskens, María Forga, Stephanie Grünewald, Johannes Häberle, Michel Hochuli, Arnaud Hubert, Hidde H. Huidekoper, Patrícia Janeiro, Jörg Kotzka, Ina Knerr, Philippe Labrune, Yuval E. Landau, Janneke G. Langendonk, Dorothea Möslinger, Dirk Müller‐Wieland, Elaine Murphy, Katrin Õunap, Danijela Petković Ramadža, Isabel Rivera, Sabine Scholl‐Buergi, Karolina M. Stępień, Abel Thijs, Christel Tran, Roshni Vara, Gepke Visser, Rein Vos, Maaike de Vries, Susan E. Waisbren, Mendy M. Welsink‐Karssies, Saskia B. Wortmann, Matthias Gautschi, Eileen P. Treacy, Gerard T. Berry

    Vydáno 2019
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  18. 18
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Autor Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Vydáno 2023
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