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

por Foran, Jason, Moore, Michael, Crushell, Ellen, Knerr, Ina, McSweeney, Niamh
Publicado 2020

Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review

por O' Brien, Niamh, Quinn, Nuala, Joyce, Birgitta, Bedford, Helen, Crushell, Ellen
Publicado 2022

Amino Acids and Inherited Amino Acid-Related Disorders

por Knerr, Ina, Bernstein, Laurie, Crushell, Ellen, O'Sullivan, Siobhan, Sass, Jörn Oliver
Publicado 2018

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience

por Hart, Caroline, McNulty, Jenny, Cotter, Melanie, Al Jasmi, Fatima, Crushell, Ellen, Monavari, Ahmad Ardeshir
Publicado 2021

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...

por Conlon, Tracey A., Fitzsimons, Patricia E., Borovickova, Ingrid, Kirby, Fidelma, Murphy, Sinéad, Knerr, Ina, Crushell, Ellen
Publicado 2020

IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland

por Somanadhan, Suja, Bristow, Hannah, Crushell, Ellen, Pastores, Gregory, Nicholson, Emma, Kroll, Thilo, Larkin, Philip J., Brinkley, Aoife
Publicado 2021

Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels

por Clark, Anne, Merrigan, Christine, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ardeshir A., Treacy, Eileen, Coughlan, Aoife
Publicado 2019

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

por Boruah, Ritma, Monavari, Ahmad Ardeshir, Conlon, Tracey, Murphy, Nuala, Stroiescu, Andreea, Ryan, Stephanie, Hughes, Joanne, Knerr, Ina, McDonnell, Ciara, Crushell, Ellen
Publicado 2022

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

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

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

por Healy, Lydia, O'Shea, Meabh, McNulty, Jennifer, King, Graham, Twomey, Eilish, Treacy, Eileen, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad Ardeshir
Publicado 2022

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

por Clark, Anne, Deverell, Deirdre, Corcoran, Emma, Macauley, Margaret, Newcombe, Nicola, Branagan, Peter, Coughlan, Aoife, Daly, Eimear, Moore Heslin, Aoibhin, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad
Publicado 2018

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy

por Marek-Yagel, Dina, Stenke, Emily, Pode-Shakked, Ben, Dunne, Cara, Crushell, Ellen, Bryce-Smith, Anthea, McDermott, Michael, O’Sullivan, Maureen J., Veber, Alvit, Krishnamurthy, Mansa, Wells, James M., Anikster, Yair, Bourke, Billy
Publicado 2022

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

por Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Publicado 2018

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

por Bolton, Shaun C., Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T., Geberhiwot, Tarekegn
Publicado 2022

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

por Langereis, Eveline J, Borgo, Andrea, Crushell, Ellen, Harmatz, Paul R, van Hasselt, Peter M, Jones, Simon A, Kelly, Paula M, Lampe, Christina, van der Lee, Johanna H, Odent, Thierry, Sakkers, Ralph, Scarpa, Maurizio, Schafroth, Matthias U, Struijs, Peter A, Valayannopoulos, Vassili, White, Klane K, Wijburg, Frits A
Publicado 2013

Consensus clinical management guidelines for Niemann-Pick disease type C

por Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A., Ory, Daniel, Bembi, Bruno, Patterson, Marc
Publicado 2018

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

por Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian
Publicado 2021

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

por Alston, Charlotte L, Howard, Caoimhe, Oláhová, Monika, Hardy, Steven A, He, Langping, Murray, Philip G, O'Sullivan, Siobhan, Doherty, Gary, Shield, Julian P H, Hargreaves, Iain P, Monavari, Ardeshir A, Knerr, Ina, McCarthy, Peter, Morris, Andrew A M, Thorburn, David R, Prokisch, Holger, Clayton, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W
Publicado 2016

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

por Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.
Publicado 2016

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

por Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.
Publicado 2016