Hasil Pencarian - Ina Knerr

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  1. 1
    Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment

    Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment oleh Dearbhla Milner, Fiona Boyle, Jenny McNulty, Ina Knerr

    Diterbitkan 2023-01-01
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  2. 2
    Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

    Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma oleh Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney

    Diterbitkan 2021-03-01
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  3. 3
    A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016–2020)

    A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016–2020) oleh Jane Rice, Jenny McNulty, Meabh O’Shea, Teresa Gudex, Ina Knerr

    Diterbitkan 2023-07-01
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  4. 4
    Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland

    Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of... oleh John Allen, Bronwyn Power, Aida Abedin, Orla Purcell, Ina Knerr, Ahmad Monavari

    Diterbitkan 2019-05-01
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  5. 5
    Amino Acids and Inherited Amino Acid-Related Disorders

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

    Diterbitkan 2018-01-01
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  6. 6
    Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis

    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... oleh Tracey A. Conlon, Patricia E. Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell

    Diterbitkan 2020-09-01
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  7. 7
    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 oleh Fiona Boyle, Gary Lynch, Clare M. Reynolds, Adam Green, Gemma Parr, Caoimhe Howard, Ina Knerr, Jane Rice

    Diterbitkan 2024-08-01
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  8. 8
    Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease

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

    Diterbitkan 2023-03-01
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  9. 9
    Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients

    Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients oleh Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Eileen Treacy, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Ardeshir Monavari

    Diterbitkan 2022-07-01
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  10. 10
    Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

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

    Diterbitkan 2017-01-01
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  11. 11
    Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results

    Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results oleh 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

    Diterbitkan 2018-01-01
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  12. 12
    Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia

    Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia oleh 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

    Diterbitkan 2022-07-01
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  13. 13
    Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

    Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions oleh 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

    Diterbitkan 2018-09-01
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  14. 14
    Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Brain function in classic galactosemia, a galactosemia network (GalNet) members review oleh 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

    Diterbitkan 2024-02-01
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  15. 15
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis oleh 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

    Diterbitkan 2023-05-01
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