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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Z Mesbah, K Sing Ho, P Fitzsimons, A A Monavari, E Crushell, P D Mayne,

Ir Med J (Irish medical journal)
[2020, 112(10):1016]

Cited: 0 times

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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

Daniel O'Reilly, Ellen Crushell, Joanne Hughes, Stephanie Ryan, Yvonne Rogers, Ingrid Borovickova, Philip Mayne, Michael Riordan, Atif Awan, Kevin Carson, Kim Hunter, Bryan Lynch, Amre Shahwan, Véronique Rüfenacht, Johannes Häberle, Eileen P Treacy, Ahmad A Monavari, Ina Knerr,

Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal-onset maple syrup urine disease (MSUD) in Ireland. Patients were stratified into three clusters according to clinical outcome at the time of data collection, including developmental, clinical, and IQ data. A fourth cluster comprised ... Read more >>

J Inherit Metab Dis (Journal of inherited metabolic disease)
[2021, 44(3):639-655]

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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Viktor Kožich, Jitka Sokolová, Andrew A M Morris, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Jakub Krijt, Carlo Dionisi-Vici, Matthias R Baumgartner, Henk J Blom, Martina Huemer, ,

Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD ... Read more >>

J Inherit Metab Dis (Journal of inherited metabolic disease)
[2021, 44(3):677-692]

Cited: 2 times

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

Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney,

A 4-year-old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had generalized dyskinesia predominantly bulbar and limbs. Motor and speech development were most affected with preservation of ... Read more >>

JIMD Rep (JIMD reports)
[2021, 58(1):12-20]

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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B Wortmann, Anne Jonge Poerink, Stephanie Grunewald, Ellen Crushell, Lihadh Al-Gazali, Maaike C de Vries, Lars Mørkrid, Jozef Hertecant, Katja S Brocke Holmefjord, David Kronn, Annette Feigenbaum, Ralph Fingerhut, Sunnie Y Wong, Monique van Scherpenzeel, Nicol C Voermans, Dirk J Lefeber,

Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production. The metabolic management consists of dietary D-galactose supplementation that ameliorates hypoglycemia, hepatic dysfunction, endocrine anomalies and growth delay. Previous studies suggest that D-galactose administration in juvenile patients leads to more ... Read more >>

Mol Genet Metab (Molecular genetics and metabolism)
[2020, 131(1-2):135-146]

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Dominic Lenz, Desirée E C Smith, Ellen Crushell, Ralf A Husain, Gajja S Salomons, Bader Alhaddad, Jonathan A Bernstein, Alyssa Bianzano, Saskia Biskup, Heiko Brennenstuhl, Dominique Caldari, Nicola Dikow, Tobias B Haack, Andrea Hanson-Kahn, Inga Harting, Denise Horn, Joanne Hughes, Maya Huijberts, Bertrand Isidor, Simone Kathemann, Robert Kopajtich, Urania Kotzaeridou, Sébastien Küry, Elke Lainka, Lucia Laugwitz, James R Lupski, Jennifer E Posey, Claire Reynolds, Jill A Rosenfeld, Julian Schröter, Fleur Vansenne, Matias Wagner, Claudia Weiß, Bruce H R Wolffenbuttel, Saskia B Wortmann, Stefan Kölker, Georg F Hoffmann, Holger Prokisch, Marisa I Mendes, Christian Staufner,

<h4>Purpose</h4>Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic findings.<h4>Methods</h4>Individuals with biallelic variants in LARS1 were included through an international, multicenter collaboration including novel and ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(11):1863-1873]

Cited: 1 time

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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 which may aid diagnosis.

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

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG Co-A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has traditionally been associated with hypoketotic hypoglycemia, hepatomegaly and encephalopathy, presenting in early childhood following a period of fasting. We report the third case of mHS deficiency presenting in the absence of hypoglycemia, ... Read more >>

JIMD Rep (JIMD reports)
[2020, 55(1):26-31]

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Children Growing up in Direct Provision.

N O' Brien, E Crushell,

Ir Med J (Irish medical journal)
[2020, 113(1):3]

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22nd Meeting of the Irish Society of Human Genetics : Friday 20th September 2019 Stranmillis University College, Belfast.

Edmund Gilbert, Seamus O’Reilly, Michael Merrigan, Darren McGettingan, Veronique Vitart, Peter K Joshi, David W Clark, Harry Campbell, Caroline Hayward, Susan M Ring, Jean Golding, Stephanie Goodfellow, Pau Navarro, Shona M Kerr, Carmen Amador, Archie Campbell, Chris S Haley, David J Porteous, Gianpiero L Cavalleri, James F Wilson, RP Byrne, W van Rheenen, JH Veldink, RL McLaughlin, Joan Fitzgerald, Laura Fahey, Laura Whitton, Gary Donohoe, Derek W Morris, LJ Smyth, C Wooster, J Kilner, F Kee, I Young, B McGuinness, AP Maxwell, GJ McKay, AJ McKnight, DM Maloney, N Chadderton, S Millington-Ward, GJ Farrar, DM Lambert, S Nguengang-Wakap, A Olry, A Rath, D Murphy, SA Lynch, EP Treacy, E Gunne, DM Lambert, C McGarvey, K Hamilton, EP Treacy, SA Lynch, S Savage, E Rasheed, A Rashid, E Keogh, B MacNamara, C Collison, N Brazil, S Whatley, VEF Crowley, DN Murphy, DM Lambert, SA Lynch, J Turner, EP Treacy, Samantha Doyle, Zaza Abidin, Suranga Senanayake, Stephanie James, Mei Yap, Caroline Hart, Ellen Crushell, Shane Smyth, Andrew Green, Eileen Treacy, Tim Lynch, Gregory Pastores, Aoife Laffan, James O’Byrne, A Palfi, A Yesmambetov, GJ Farrar, CM Ormond, NM Ryan, EA Heron, M Gill, AP Corvin, CM Kelly, RP Byrne, MA Doherty, JC Hengeveld, RL McLaughlin, C Campbell, C Leu, N Delanty, D Lal, GL Cavalleri, CZ Angel, CJ McNally, DJ McKenna, EM Breslin, LM Cassidy, R Martiniano, V Mattiangeli, AM Silva, DG Bradley, H Kearney, G Balagura, D Lewis-Smith, S Ganesan, J Gan, PD Galer, Y Wang, NCK Tan, NJ Lench, CA Steward, R Krause, P Robinson, N Delanty, GL Cavalleri, I Helbig, LK Finnegan, N Chadderton, A Palfi, S Millington-Ward, P Kenna, M Carty, AG Bowie, GJ Farrar, L Whelan, A Dockery, PF Kenna, D Keegan, G Silvestri, M Khan, SS Cornelis, CM Dhaenens, P Humphries, GJ Farrar, FPM Cremers, S Roosing, Laura Fahey, Gary Donohoe, Pilib Ó Broin, Derek Morris, Úna M McVeigh, Terri P McVeigh, Nicola Miller, Derek W Morris, Michael J Kerin, Andrew Flaus, RE Irwin, SJ Thursby, M Ondičová, K Pentieva, H McNulty, C Richmond, A Caffrey, DJ Lees-Murdock, M McLaughlin, T Cassidy, M Suderman, CL Relton, CP Walsh, N Chadderton, A Palfi, M Carrigan, S Millington-Ward, D Maloney, K Hanlon, P Humphries, PF Kenna, GJ Farrar, N Bookey, P Drago, A Parle-McDermott, P Drago, N Bookey, A Parle-McDermott, PM Flynn, A Toulouse, N Bermingham, M Jansen, CK Hand, RL McLaughlin, RD Skelly, LJ Smyth, J Cole, AP Maxwell, AJ McKnight, S Millington-Ward, N Chadderton, A Palfi, M Berkeley, K Hanlon, P Humphries, PF Kenna, GJ Farrar, Thomas Dinneen, A O’Cónail, George Kirov, Lorna M Lopez, Louise Gallagher, Z Ning, JM Williams, R Kumari, PV Baranov, T Moore, Sushil Bhandari, Sara Hillman, Edmund Gilbert, Padma Dolma, Mitali Mukerji, Bhavana Prasher, Hugh E. Montgomery, Gianpiero L Cavalleri, EA Gunne, C McGarvey, K Hamilton, A Ward, E Treacy, D Lambert, SA Lynch, KA Benson, S Murray, SR Senum, C Kennedy, K Yachnin, N Gangadharan, PC Harris, GL Cavalleri, P Conlon, A Dockery, L Whelan, M Carrigan, J Zhu, N Wynne, G Silvestri, D Keegan, PF Kenna, GJ Farrar, C McKenna, M Humphreys, S McNerlan, T Dabir, C McKenna, G Rea, M Humphreys, S McNerlan, PJ Morrison, DE Donnelly, L Jeffers, PJ Morrison, E Sasaki, H Kelly, B Hayes, K Ryan, E Carolan, D Betts, A Green, A Sheerin, L Grabowsky, S James, S Senanayake, Z Abidin, J O’Byrne, E Treacy, G Pastores, C McKenna, G Rea, V McConnell, DE Donnelly, L Jeffers, PJ Morrison, C McKenna, L Bradley, SA Lynch, L Jeffers, J Reid, D Fitzsimons, PJ Morrison, M Dempster, Michaela Pentony, Lisa Bradley, Pamela O’ Connor, Claire W Kirk, Deirdre E Donnelly, Rachel Hardy, Charles W Shepherd, Patrick J Morrison, S James, A Sheerin, L Grabowsky, Z Abidin, S Doyle, S Senanayake, T McVeigh, E Treacy, G Pastores, JJ O’Byrne, SL Senanayake, S Sadok, GM Pastores, R Forde, S Savage, A Rakovac, E Rasheed, A Rashid, S Abdelfadil, B Mac Namara, E Keogh, P O’Connor, S Heggarty, P Hart, VEF Crowley, NE Morgan, E Dorris, E Cummins, F Adeeb, C Taylor, S Savic, O Killeen, A Fraser, AG Wilson, Jane Murphy, Claire Kirk, Terence Prendiville, Deirdre Ward, Joseph Galvin, Sally Ann Lynch, C Carroll, T McVeigh, C Kirk, J Murphy, A Ward, SA Lynch, M Duff, E Mooney, T Clark, C King, SA Lynch, L Fallah, J Hinde,

<h4>Background</h4> Age-related cognitive decline results in increased difficulty in performing tasks that require memory or rapid information processing. Cognitive resilience is the ability to withstand the negative effects of stress on cognitive functioning. The polygenetic contribution to cognitive resilience requires large data sets for analysis. In addition, longitudinal data is ... Read more >>

Ulster Med J (The Ulster medical journal)
[2020, 89(1):47-63]

Cited: 0 times

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.

Z Mesbah, K Sing Ho, P Fitzsimons, A A Monavari, P D Mayne, E Crushell,

Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population ... Read more >>

Ir Med J (Irish medical journal)
[2019, 112(10):1016]

Cited: 0 times

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The risk of malnutrition in children with autism spectrum disorder.

Lydia Iris Healy, Eimear Forbes, Jane Rice, Jane M Leonard, Ellen Crushell,

A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. He had vomited intermittently in the two preceding months, without headaches, visual disturbance or early morning symptoms. He had autism spectrum disorder, and restricted eating since aged 2 years, eating only corn-crisps, Rich Tea biscuits and ... Read more >>

Arch Dis Child Educ Pract Ed (Archives of disease in childhood. Education and practice edition)
[2019, :]

Cited: 0 times

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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Derya Bulut, Joseph A Church, Ellen Crushell, Buket Dalgıç, Anibh M Das, Anke Dick, Nicola Dikow, Carlo Dionisi-Vici, Felix Distelmaier, Neslihan Ekşi Bozbulut, François Feillet, Emmanuel Gonzales, Nedim Hadzic, Fabian Hauck, Robert Hegarty, Maja Hempel, Theresia Herget, Christoph Klein, Vassiliki Konstantopoulou, Robert Kopajtich, Alice Kuster, Martin W Laass, Elke Lainka, Catherine Larson-Nath, Alexander Leibner, Eberhard Lurz, Johannes A Mayr, Patrick McKiernan, Karine Mention, Ute Moog, Neslihan Onenli Mungan, Korbinian M Riedhammer, René Santer, Irene Valenzuela Palafoll, Jerry Vockley, Dominik S Westphal, Arnaud Wiedemann, Saskia B Wortmann, Gaurav D Diwan, Robert B Russell, Holger Prokisch, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Dominic Lenz,

<h4>Purpose</h4>Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis.<h4>Methods</h4>Individuals with biallelic variants in NBAS were recruited within an ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(3):610-621]

Cited: 3 times

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The Addition of MCADD to the Newborn Blood Spot Screening Programme

H Ryan, E Crushell, M A Boyle,

Ir Med J (Irish medical journal)
[2019, 112(8):995]

Cited: 0 times

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Prevention and Therapeutic Innovation in the Management of Child Health.

Hilary Hoey, Terence Stephenson, Leyla Namazova-Baranova, Massimo Pettoello-Mantovani, Julije Mestrovic, Mehmet Vural, Ellen Crushell,

J Pediatr (The Journal of pediatrics)
[2019, 208:300-301]

Cited: 0 times

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

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

Phenylketonuria (PKU) is an inherited metabolic disorder affecting phenylalanine metabolism. The Irish incidence is 1:4500. Currently, there are 500 patients under the care of the National Centre for Inherited Metabolic Disorders in Temple Street Children's University Hospital. Current practice is to admit PKU patients with phenylalanine (phe) levels that are ... Read more >>

JIMD Rep (JIMD reports)
[2019, 46(1):70-74]

Cited: 1 time

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Florian Gleich, Stefan Kölker, Viktor Kožich, Andrew A Morris, Burkhardt Seifert, D Sean Froese, Matthias R Baumgartner, Carlo Dionisi-Vici, , Carlos Alcalde Martin, Martina Baethmann, Diana Ballhausen, Javier Blasco-Alonso, Nikolas Boy, Maria Bueno, Rosa Burgos Peláez, Roberto Cerone, Brigitte Chabrol, Kimberly A Chapman, Maria Luz Couce, Ellen Crushell, Jaime Dalmau Serra, Luisa Diogo, Can Ficicioglu, Maria Concepcion García Jimenez, Maria Teresa García Silva, Ana Maria Gaspar, Matthias Gautschi, Domingo González-Lamuño, Sofia Gouveia, Stephanie Grünewald, Chris Hendriksz, Mirian C H Janssen, Pavel Jesina, Johannes Koch, Vassiliki Konstantopoulou, Christian Lavigne, Allan M Lund, Esmeralda G Martins, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Helen Mundy, Elaine Murphy, Stephanie Paquay, Consuelo Pedrón-Giner, Maria Angeles Ruiz Gómez, Saikat Santra, Manuel Schiff, Ida Vanessa Schwartz, Sabine Scholl-Bürgi, Aude Servais, Anastasia Skouma, Christel Tran, Inmaculada Vives Piñera, John Walter, James Weisfeld-Adams,

<h4>Aim</h4>To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry.<h4>Results</h4>This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n ... Read more >>

J Inherit Metab Dis (Journal of inherited metabolic disease)
[2019, 42(2):333-352]

Cited: 7 times

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Newborn screening for homocystinurias: Recent recommendations versus current practice.

Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Stefan Kölker, Henk J Blom, Matthias R Baumgartner, Josef Bártl, Carlo Dionisi-Vici, Florian Gleich, Andrew A Morris, Viktor Kožich, Martina Huemer, , Ivo Barić, Tawfeq Ben-Omran, Javier Blasco-Alonso, Maria A Bueno Delgado, Claudia Carducci, Michela Cassanello, Roberto Cerone, Maria Luz Couce, Ellen Crushell, Carmen Delgado Pecellin, Elena Dulin, Mercedes Espada, Giulio Ferino, Ralph Fingerhut, Immaculada Garcia Jimenez, Immaculada Gonzalez Gallego, Yolanda González-Irazabal, Gwendolyn Gramer, Maria Jesus Juan Fita, Eszter Karg, Jeanette Klein, Vassiliki Konstantopoulou, Giancarlo la Marca, Elisa Leão Teles, Vincenzo Leuzzi, Franco Lilliu, Rosa Maria Lopez, Allan M Lund, Philip Mayne, Silvia Meavilla, Stuart J Moat, Jürgen G Okun, Elisabeta Pasquini, Consuélo Carmen Pedron-Giner, Gabor Zoltan Racz, Maria Angeles Ruiz Gomez, Laura Vilarinho, Raquel Yahyaoui, Moja Zerjav Tansek, Rolf H Zetterström, Maximilian Zeyda,

PURPOSE:To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS:Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, ... Read more >>

J Inherit Metab Dis (Journal of inherited metabolic disease)
[2019, 42(1):128-139]

Cited: 8 times

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As Few Pediatricians as Possible and as Many Pediatricians as Necessary?

Jochen Ehrich, Laila Burla, Angel Carrasco Sanz, Ellen Crushell, Fügen Cullu, Jana Fruth, Andreas Gerber-Grote, Hilary Hoey, Karoly Illy, Jan Janda, Danielle Jansen, Reinhold Kerbl, Julije Mestrovic, Aida Mujkic, Leyla Namazova-Baranova, Alf Nicholson, Massimo Pettoello-Mantovani, Vladimir Pilossoff, Sergey Sargsyans, Eli Somekh, Mario Trošelj, Mehmet Vural, Andreas Werner,

J Pediatr (The Journal of pediatrics)
[2018, 202:338-339.e1]

Cited: 0 times

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Amino Acids and Inherited Amino Acid-Related Disorders.

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

J Nutr Metab (Journal of nutrition and metabolism)
[2018, 2018:5629454]

Cited: 0 times

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

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,

The Metabolic Dietetic Team in the National Centre for Inherited Metabolic Disorders (NCIMD) in Ireland deals with approximately 120 weekly phenylalanine (Phe) levels for both adults and children. A review of 500 Phe levels highlighted that 52% of the results were within the target range. Collaboration between information and communication technologies ... Read more >>

J Nutr Metab (Journal of nutrition and metabolism)
[2018, 2018:2178346]

Cited: 0 times

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Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Nurulamin Abu Bakar, Nicol C Voermans, Thorsten Marquardt, Christian Thiel, Mirian C H Janssen, Hana Hansikova, Ellen Crushell, Jolanta Sykut-Cegielska, Francis Bowling, Lars MØrkrid, John Vissing, Eva Morava, Monique van Scherpenzeel, Dirk J Lefeber,

Phosphoglucomutase 1 (PGM1) deficiency results in a mixed phenotype of a Glycogen Storage Disorder and a Congenital Disorder of Glycosylation (CDG). Screening for abnormal glycosylation has identified more than 40 patients, manifesting with a broad clinical and biochemical spectrum which complicates diagnosis. Together with the availability of D-galactose as dietary ... Read more >>

Transl Res (Translational research : the journal of laboratory and clinical medicine)
[2018, 199:62-76]

Cited: 6 times

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

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

Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2018, 176(5):1115-1127]

Cited: 14 times

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Consensus clinical management guidelines for Niemann-Pick disease type C.

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

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):50]

Cited: 38 times

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Catalogue of inherited disorders found among the Irish Traveller population.

Sally Ann Lynch, Ellen Crushell, Deborah M Lambert, Niall Byrne, Kathleen Gorman, Mary D King, Andrew Green, Siobhan O'Sullivan, Fiona Browne, Joanne Hughes, Ina Knerr, Ahmad A Monavari, Melanie Cotter, Vivienne P M McConnell, Bronwyn Kerr, Simon A Jones, Catriona Keenan, Nuala Murphy, Declan Cody, Sean Ennis, Jackie Turner, Alan D Irvine, Jillian Casey,

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous ... Read more >>

J Med Genet (Journal of medical genetics)
[2018, 55(4):233-239]

Cited: 3 times

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20th Meeting of the Irish Society of Human Genetics : Friday 15th September 2017 Croke Park, Dublin

P Hynds, D Coghlan, C Purcell, A Green, A Ward, SA Lynch, O Hough, M Duff, N Cody, C Carroll, L Bradley, Andrew Green, Sally-Ann Lynch, SA Lynch, E Crushell, N Byrne, K Gorman, M King, A Irvine, A Monavari, I Knerr, M Cotter, V McConnell, A Green, F Browne, D Lambert, J Turner, J Casey, S Doyle, IM Nesbitt, M Fitzgibbon, SA Lynch, G Pastores, R Kirk, EP Treacy, KA Benson, C Kennedy, K Yachnin, G L Cavalleri, P Conlon, Úna M McVeigh, Terri P McVeigh, Nicola Miller, Derek W Morris, Michael J Kerin, R. Irwin, A. Caffrey, M. McLaughlin, H. McNulty, T. Cassidy, K. Pentieva, C. Walsh, S Minguzzi, A MacCooey, J Brosnan, M Brosnan, M Henry, P Meleady, A Parle-McDermott, EH Gilbert, S O’Reilly, M Merrigan, D McGettigan, AM Molloy, LC Brody, W Bodmer, K Hutnik, S Ennis, DJ Lawson, JF Wilson, GL Cavalleri, M Flynn, L Whitton, M Gill, A Corvin, G Donohoe, C Morrison, D Morris, CP. Stapleton, KA. Birdwell, PB. Mark, ML. Sanders, PJ. Phelan, AP. Maxwell, AJ. McKnight, C. Kennedy, A. Jardine, J.P Traynor, F. Chapman, B. Keating, PJ. Conlon, GL. Cavalleri, EA Gunne, A Ward, DM Lambert, SA Lynch, R Martin, DE Donnelly, MB Callaghan, DE Donnelly, PJ Morrison, DO McConville, GP Archbold, A Lewis, P J Morrison, S. Das, D. Kelly, B. Moran, E. Harold, K. Han, N. Mulligan, C. Barrett, P.G. Buckley, P. Mc Mahon, J McCaffrey, H. F. Van Essen, K. Connor, B. Ylstra, D. Lambrechts, W.M. Gallagher, D.P. O’Connor, C.M. Kelly, T O’Neill, C Power, E de Franco, S Ellard, SA Lynch, B Antao, SM O’Connell, V McConnell, T Dabir, S Heggarty, A Dockery, M Carrigan, N Wynne, D Keegan, K Stevenson, G Silvestri, A Green, J McCourt, P Humphries, PF. Kenna, GJ Farrar, R Agbahovbe, ASA Cohen, WT Gibson, AM Cole, R. Bohlender, H Hu, E Heinrich, C Ramirez, Y Yu, F Powell, E Gaio, F. Villafuerte, C Taylor, C Huff, T. Simonson, G. Cavalleri, C Scullion, R Irwin, A Thakur, C Walsh, C Shortall, A Palfi, N Chadderton, PF Kenna, M Carrigan, S Boomkamp, S Shen, AJ Hardcastle, GJ Farrar, DM Maloney, N Chadderton, S Millington-Ward, GJ Farrar, A Thakur, S-J Mackin, R E. Irwin, KM. O’Neill, G Pollin, C Walsh, L Whitton, G Apostolova, G Dechant, G Donohoe, D Morris, SJ Mackin, K O’Neill, CP Walsh, L Whitton, MNA Sohedein, G Donohoe, DW Morris, M Chaudhry, R Segurado, D Shields, AG Wilson, R.L. Watkin, O. Piskareva, S. Das, S. Madden, R. Stallings, S.W. Kerrigan, K M. O’Neill, R Irwin, SJ Mackin, A Thakur, SJ Thursby, C Bertens, L Masala, J Loughery, D McArt, CP Walsh, S. D. Amenyah, A. McMahon, J. Deane, M. Ward, H. McNulty, J.J. Strain, G. Horigan, J. Purvis, D. Lees-Murdock, SM. Lynch, M Ward, H McNulty, G Horigan, J.J. Strain, J Purvis, M Tackett, DJ. McKenna, Z Angel, CP. Walsh, DJ. McKenna,

Neurofibromatosis (NF1) affects 1/2500 people throughout the world. Children with NF1 require a multidisciplinary service ideally, delivered on a single site. NF1 is a very variable condition with children requiring the expertise of genetics, paediatricians, ophthalmologists, dermatologists, neurologists and other specialities as required. Building such a service concentrates expertise, facilitates ... Read more >>

Ulster Med J (The Ulster medical journal)
[2018, 87(1):54-64]

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