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

by Dearbhla Milner, Fiona Boyle, Jenny McNulty, Ina Knerr
Published 2023-01-01

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

by Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney
Published 2021-03-01

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of...

by John Allen, Bronwyn Power, Aida Abedin, Orla Purcell, Ina Knerr, Ahmad Monavari
Published 2019-05-01

A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016–2020)

by Jane Rice, Jenny McNulty, Meabh O’Shea, Teresa Gudex, Ina Knerr
Published 2023-07-01

Amino Acids and Inherited Amino Acid-Related Disorders

by Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass
Published 2018-01-01

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...

by Tracey A. Conlon, Patricia E. Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell
Published 2020-09-01

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease

by Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Published 2023-03-01

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience

by Ritma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, Nuala Murphy, Andreea Stroiescu, Stephanie Ryan, Joanne Hughes, Ina Knerr, Ciara McDonnell, Ellen Crushell
Published 2022-03-01

Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients

by Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Eileen Treacy, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Ardeshir Monavari
Published 2022-07-01

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

by Orla Purcell, Aoife Coughlan, Tim Grant, Jenny McNulty, Anne Clark, Deirdre Deverell, Philip Mayne, Joanne Hughes, Ahmad Monavari, Ina Knerr, Ellen Crushell
Published 2017-01-01

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

by 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
Published 2018-01-01

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

by 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
Published 2022-07-01

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

by 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
Published 2018-09-01

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

by 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
Published 2024-02-01

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

by 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
Published 2023-05-01