نتائج البحث - Ina Knerr

Amino Acids and Inherited Amino Acid-Related Disorders حسب Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass

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Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers whi... حسب Tracey A. Conlon, Patricia E. Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell

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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease حسب Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah

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Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake حسب Orla Purcell, Aoife Coughlan, Tim Grant, Jenny McNulty, Anne Clark, Deirdre Deverell, Philip Mayne, Joanne Hughes, Ahmad Monavari, Ina Knerr, Ellen Crushell

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Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results حسب Anne Clark, Deirdre Deverell, Emma Corcoran, Margaret Macauley, Nicola Newcombe, Peter Branagan, Aoife Coughlan, Eimear Daly, Aoibhin Moore Heslin, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Monavari

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Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia حسب Beate Peter, Jennifer Davis, Lizbeth Finestack, Carol Stoel-Gammon, Mark VanDam, Laurel Bruce, Yookyung Kim, Linda Eng, Sarah Cotter, Emily Landis, Sam Beames, Nancy Scherer, Ina Knerr, Delaney Williams, Claire Schrock, Nancy Potter

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Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions حسب Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran, Eileen P. Treacy

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

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis حسب 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-Sánchez, Beatriz Martínez-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. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, 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 Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

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