β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity von Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A., Gummesson, Anders, Reims, Annika, Cayuela, Jorge A., Kuklina, Natalia, Benoist, Jean-François, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F., Bierau, Jörgen, Kaindl, Angela M., van Kuilenburg, André B.P.

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Monocarboxylate Transporter 1 Deficiency and Ketone Utilization von van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs

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

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N-Glycan Abnormalities in Children with Galactosemia von Coss, Karen P, Hawkes, Colin P, Adamczyk, Barbara, Stöckmann, Henning, Crushell, Ellen, Saldova, Radka, Knerr, Ina, Rubio-Gozalbo, Maria E, Monavari, Ardeshir A, Rudd, Pauline M, Treacy, Eileen P

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Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels von Clark, Anne, Merrigan, Christine, Crushell, Ellen, Hughes, Joanne, Knerr, Ina, Monavari, Ardeshir A, Treacy, Eileen, Coughlan, Aoife

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Diagnosing Childhood-onset Inborn Errors of Metabolism by Next Generation Sequencing von Ghosh, Arunabha, Schlecht, Hélene, Heptinstall, Lesley, Bassett, John K, Cartwright, Eleanor, Bhaskar, Sanjeev, Urquhart, Jill, Broomfield, Alexander, Morris, Andrew AM, Jameson, Elisabeth, Schwahn, Bernd C, Walter, John, Douzgou, Sofia, Murphy, Helen, Hendriksz, Christian, Sharma, Reena, Wilcox, Gisela, Crushell, Ellen, Monavari, Ardeshir A, Martin, Richard E, Doolan, Anne, Senniappan, Senthil, Ramsden, Simon, Jones, Simon A, Banka, Siddharth

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

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beta-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity von Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A, Gummesson, Anders, Reims, Annika, Cayuela, Jorge A, Kuklina, Natalia, Benoist, Jean-Francois, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F, Bierau, Jörgen, Kaindl, Angela M, Kuilenburg, Andre B. P. van

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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals von Stolwijk, Nina N, Häberle, Johannes, Huidekoper, Hidde H, Wagenmakers, Margreet A E M, Hollak, Carla E M, Bosch, Annet M

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Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience von Boruah, Ritma, Monavari, Ahmad Ardeshir, Conlon, Tracey, Murphy, Nuala, Stroiescu, Andreea, Ryan, Stephanie, Hughes, Joanne, Knerr, Ina, McDonnell, Ciara, Crushell, Ellen

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Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives von Tumienė, Birutė, Del Toro Riera, Mireia, Grikiniene, Jurgita, Samaitiene-Aleknienė, Rūta, Praninskienė, Rūta, Monavari, Ahmad Ardeshir, Sykut-Cegielska, Jolanta

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

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The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience von Hart, Caroline, McNulty, Jenny, Cotter, Melanie, Al Jasmi, Fatima, Crushell, Ellen, Monavari, Ahmad Ardeshir

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Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy von Palmfeldt, Johan, Vang, Søren, Stenbroen, Vibeke, Pavlou, Evangelos, Baycheva, Mila, Buchal, Gebhard, Monavari, Ardeshir Ahmad, Augoustides-Savvopoulou, Persephone, Mandel, Hanna, Gregersen, Niels

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The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience von Hart, Caroline, McNulty, Jenny, Cotter, Melanie, Al Jasmi, Fatima, Crushell, Ellen, Monavari, Ahmad Ardeshir

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