Ellen Crushell

Ellen Crushell

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Ellen Crushell

Ellen Crushell

Publications by authors named "Ellen Crushell"

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The risk of malnutrition in children with autism spectrum disorder.

Arch Dis Child Educ Pract Ed 2019 Dec 2. Epub 2019 Dec 2.

National Centre of Inherited Metabolic Disease, Children's Health Ireland at Temple Street, Dublin, Ireland.

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http://dx.doi.org/10.1136/archdischild-2019-317453DOI Listing
December 2019

Prevention and Therapeutic Innovation in the Management of Child Health.

J Pediatr 2019 May;208:300-301

European Paediatric Association-Union of National European Paediatric Societies and Associations (EPA-UNEPSA), Berlin, Germany; Royal College of Physicians of Ireland, Dublin, Ireland; School of Medicine, University College Dublin, Temple Street Children's Hospital and Our Lady's Children's Hospital, Dublin, Ireland.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476193015
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http://dx.doi.org/10.1016/j.jpeds.2019.01.056DOI Listing
May 2019

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

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

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

Transl Res 2018 09 10;199:62-76. Epub 2018 May 10.

Department of Neurology and Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2018.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041963PMC
September 2018

Amino Acids and Inherited Amino Acid-Related Disorders.

J Nutr Metab 2018 10;2018:5629454. Epub 2018 Sep 10.

Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany.

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https://www.hindawi.com/journals/jnme/2018/5629454/
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http://dx.doi.org/10.1155/2018/5629454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6151679PMC
September 2018

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

J Nutr Metab 2018 24;2018:2178346. Epub 2018 Jun 24.

National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1155/2018/2178346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035849PMC
June 2018

Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.

Brain Dev 2017 Jun 9;39(6):536-538. Epub 2017 Feb 9.

National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.01.005DOI Listing
June 2017

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Clin Dysmorphol 2016 Oct;25(4):146-51

aDepartment of Clinical Genetics bNational Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital cUCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin dDepartment of Clinical Genetics, Our Lady's Children's Hospital, Dublin eNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000134DOI Listing
October 2016

Friedreich Ataxia in Classical Galactosaemia.

JIMD Rep 2016 29;26:1-5. Epub 2015 Jul 29.

National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.

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http://link.springer.com/10.1007/8904_2015_477
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http://dx.doi.org/10.1007/8904_2015_477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864715PMC
May 2016

A Long-term Retrospective Evaluation of Functional and Radiographic Outcomes of Pediatric Hip Surgery in Hurler Syndrome.

J Pediatr Orthop 2016 Jan;36(1):25-8

Departments of *Orthopaedics †Haematology/Oncology §Metabolic Disease, Our Lady's Children's Hospital, Crumlin ‡Mater Misericordiae Hospital, Dublin, Ireland.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/BPO.0000000000000385DOI Listing
January 2016

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

J Inherit Metab Dis 2015 Nov 28;38(6):1085-92. Epub 2015 Apr 28.

UCD Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.

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http://link.springer.com/10.1007/s10545-015-9849-1
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http://dx.doi.org/10.1007/s10545-015-9849-1DOI Listing
November 2015

Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.

Pediatr Res 2015 Sep 8;78(3):272-9. Epub 2015 Jun 8.

National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1038/pr.2015.107DOI Listing
September 2015

N-glycan abnormalities in children with galactosemia.

J Proteome Res 2014 Feb 20;13(2):385-94. Epub 2013 Dec 20.

University College Dublin (UCD) , Clinical Research Centre, Mater Misericordiae University Hospital, Eccles Street, Dublin, Ireland.

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http://dx.doi.org/10.1021/pr4008305DOI Listing
February 2014

Cyclic vomiting syndrome masking a fatal metabolic disease.

Eur J Pediatr 2013 May 11;172(5):707-10. Epub 2012 Oct 11.

Anaesthesia and Intensive Care Medicine, St Vincent's University Hospital, Elm Park, Dublin 4, Ireland.

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http://link.springer.com/content/pdf/10.1007/s00431-012-1852
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http://link.springer.com/10.1007/s00431-012-1852-z
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http://dx.doi.org/10.1007/s00431-012-1852-zDOI Listing
May 2013

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

Am J Med Genet A 2012 Sep 27;158A(9):2254-7. Epub 2012 Jul 27.

National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.35479DOI Listing
September 2012

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

Mol Genet Metab 2012 Jul 26;106(3):351-8. Epub 2012 Apr 26.

National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.017DOI Listing
July 2012

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

Dev Med Child Neurol 2012 Jun 27;54(6):500-6. Epub 2012 Feb 27.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04224.xDOI Listing
June 2012

Doctors' knowledge of the acute management of Inborn Errors of Metabolism.

Acta Paediatr 2011 Mar 8;100(3):461-3. Epub 2010 Nov 8.

National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/j.1651-2227.2010.02062.xDOI Listing
March 2011

Glycogen storage disease type III in the Irish population.

J Inherit Metab Dis 2010 Dec 20;33 Suppl 3:S215-8. Epub 2010 May 20.

National Centre for Inherited Metabolic Disorders, Children's University Hospital, Temple St, Dublin 1, Ireland.

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http://dx.doi.org/10.1007/s10545-010-9096-4DOI Listing
December 2010

Elevated TSH levels in a mentally retarded boy.

Eur J Pediatr 2010 May;169(5):573-5

National Centre for Inherited Metabolic Disorders, Children's University Hospital and Our Lady's Children's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1007/s00431-009-1075-0DOI Listing
May 2010

Reversible multiorgan system involvement in a neonate with complex IV deficiency.

Pediatr Neurol 2008 Nov;39(5):368-70

National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.023DOI Listing
November 2008

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

J Pediatr Endocrinol Metab 2006 Nov;19(11):1343-52

Department of Endocrinology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1515/jpem.2006.19.11.1343DOI Listing
November 2006

A prospective study of the oral manifestations of Crohn's disease.

Clin Gastroenterol Hepatol 2005 Sep;3(9):886-91

Children's Research Centre, Our Lady's Hospital for Sick Children, and Department of Paediatrics, University College Dublin, Crumlin, Dublin 12, Ireland.

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http://dx.doi.org/10.1016/s1542-3565(05)00424-6DOI Listing
September 2005

Enteric campylobacter: purging its secrets?

Pediatr Res 2004 Jan 6;55(1):3-12. Epub 2003 Nov 6.

FRCPI, Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

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http://dx.doi.org/10.1203/01.PDR.0000099794.06260.71DOI Listing
January 2004

Importance of parental conceptual model of illness in severe recurrent abdominal pain.

Pediatrics 2003 Dec;112(6 Pt 1):1368-72

Department of Paediatrics, Conway Institute for Biomolecular and Biomedical Research, University College, Dublin, Ireland.

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http://dx.doi.org/10.1542/peds.112.6.1368DOI Listing
December 2003

Occlusion of an aberrant artery to a pulmonary sequestration using a duct occluder.

J Interv Cardiol 2002 Oct;15(5):415-6

Department of Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1111/j.1540-8183.2002.tb01078.xDOI Listing
October 2002