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1

Catalogue of inherited disorders found among the Irish Traveller population

Lynch, Sally Ann, Crushell, Ellen, Lambert, Deborah M, Byrne, Niall, Gorman, Kathleen, King, Mary D, Green, Andrew, O’Sullivan, Siobhan, Browne, Fiona, Hughes, Joanne, Knerr, Ina, Monavari, Ahmad A, C

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 503 KB

english, 2018

2

The International Niemann-Pick Disease Registry (INPDR) - A new model of patient-empowered data ownership and management

Imrie, Jackie, Pineda, Merce, Coll, Maria Jose, Hiwot, Tarek, Jones, Simon, Bembi, Bruno, Hrbicek, Martin, Mengel, Eugen, Crushell, Ellen, Patterson, Marc, Green, Jim

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

3

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

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

Journal:

Journal of Nutrition and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.50 MB

english, 2018

4

Amino Acids and Inherited Amino Acid-Related Disorders

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

Journal:

Journal of Nutrition and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.39 MB

english, 2018

5

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

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, S

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 285 KB

english, 2013

6

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

Abu Bakar, Nurulamin, Voermans, Nicol C., Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C.H., Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, Mørkrid, Lars, Viss

Journal:

Translational Research

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

7

The risk of malnutrition in children with autism spectrum disorder

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

Journal:

Archives of Disease in Childhood - Education and Practice

Year:

2019

File:

PDF, 272 KB

2019

8

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

Cedric Shackleton, Josep Marcos, Ewa M. Malunowicz, Maria Szarras-Czapnik, Petr Jira, Norman F. Taylor, Nuala Murphy, Ellen Crushell, Michael Gottschalk, Berthold Hauffa, Deborah L. Cragun, Robert J.

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 280 KB

english, 2004

9

Elevated TSH levels in a mentally retarded boy

Ellen Crushell, William Reardon

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 90 KB

english, 2010

10

Negative screening tests in classical galactosaemia caused by S135L homozygosity

E. Crushell, J. Chukwu, P. Mayne, J. Blatny, E. P. Treacy

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 81 KB

english, 2009

11

Interspecific competition between Sphagnum mosses at different water tables

B. J. M. ROBROEK, J. LIMPENS, A. BREEUWER, P. H. CRUSHELL, M. G. C. SCHOUTEN

Journal:

Functional Ecology

Year:

2007

Language:

english

File:

PDF, 278 KB

english, 2007

12

Restoration of a Terrestrialized Soak Lake of an Irish Raised Bog: Results of Field Experiments

Patrick H. Crushell, Alfons J. P. Smolders, Matthijs G. C. Schouten, Bjorn J. M. Robroek, Geert van Wirdum, Jan G. M. Roelofs

Journal:

Restoration Ecology

Year:

2011

Language:

english

File:

PDF, 1.02 MB

english, 2011

13

Occlusion of an Aberrant Artery to a Pulmonary Sequestration Using a Duct Occluder

ELLEN CRUSHELL, ARWA SAIDI, ALI AL-HASSAN, KEVIN WALSH

Journal:

Journal of Interventional Cardiology

Year:

2002

Language:

english

File:

PDF, 491 KB

english, 2002

14

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Orrico, Alfredo, Galli, Lucia, Cavaliere, Maria Luigia, Garavelli, Livia, Fryns, Jean-Pierre, Crushell, Ellen, Rinaldi, Maria Michela, Medeira, Ana, Sorrentino, Vincenzo

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 138 KB

english, 2003

15

Sphagnum re-introduction in degraded peatlands: The effects of aggregation, species identity and water table

Bjorn J.M. Robroek, Jasper van Ruijven, Matthijs G.C. Schouten, Angela Breeuwer, Patrick H. Crushell, Frank Berendse, Juul Limpens

Journal:

Basic and Applied Ecology

Year:

2009

Language:

english

File:

PDF, 341 KB

english, 2009

16

Doctors’ knowledge of the acute management of Inborn Errors of Metabolism

Colin Patrick Hawkes, Aoibhinn Walsh, Siobhan O’Sullivan, Ellen Crushell

Journal:

Acta Paediatrica

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

17

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

VICTORIA NESBITT, PATRICK J MORRISON, ELLEN CRUSHELL, DEIRDRE E DONNELLY, CHARLOTTE L ALSTON, LANGPING HE, ROBERT MCFARLAND, ROBERT W TAYLOR

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 435 KB

english, 2012

18

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

Ellen Crushell, Daire O'Leary, Alan D Irvine, Anne O'Shea, Philip D Mayne, William Reardon

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 151 KB

english, 2012

19

Reversible Multiorgan System Involvement in a Neonate With Complex IV Deficiency

Evonne Low, Ellen B. Crushell, Sinead B. Harty, Stephanie P. Ryan, Eileen P. Treacy

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 181 KB

english, 2008

20

116. Identification of pharmacological chaperones for feline and human GM1 gangliosidosis

Brigitte Rigat, Tropak Michael, Ellen Crushell, Benedict Daphne, Douglas Martin, Arnold Stuetz, John Callahan, Don Mahuran

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

21

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

Jillian P. Casey, Paul McGettigan, Niamh Lynam-Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O' Sullivan, Ellen Crushell, SallyAnn Lynch, Sean Ennis

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 998 KB

english, 2012

22

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Brigitte A. Rigat, Michael B. Tropak, Justin Buttner, Ellen Crushell, Daphne Benedict, John W. Callahan, Douglas R. Martin, Don J. Mahuran

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

23

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

Coss, K. P., Doran, P. P., Owoeye, C., Codd, M. B., Hamid, N., Mayne, P. D., Crushell, E., Knerr, I., Monavari, A. A., Treacy, E. P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 152 KB

english, 2013

24

Cyclic vomiting syndrome masking a fatal metabolic disease

Fitzgerald, Marianne, Crushell, Ellen, Hickey, Caroline

Journal:

European Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 141 KB

english, 2013

25

Glycogen storage disease type III in the Irish population

Crushell, Ellen, Treacy, Eileen P., Dawe, J., Durkie, M., Beauchamp, Nicholas J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 116 KB

english, 2010

26

A Prospective Study of the Oral Manifestations of Crohn’s Disease

HARTY, S, FLEMING, P, ROWLAND, M, CRUSHELL, E, MCDERMOTT, M, DRUMM, B, BOURKE, B

Journal:

Clinical Gastroenterology and Hepatology

Year:

2005

Language:

english

File:

PDF, 171 KB

english, 2005

27

I-cell disease: The experience of six centres

Jameson, Elisabeth, Wilson, Barbara, Santra, Saikat, Broomfield, Alexander, McElligott, Fiona, Crushell, Ellen, Stewart, Fiona, Pierre, Germaine, Powers, Victoria, Wraith, Ed, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

28

N- Glycan Abnormalities in Children with Galactosemia

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

Journal:

Journal of Proteome Research

Year:

2014

Language:

english

File:

PDF, 2.24 MB

english, 2014

29

The changing landscape of Clara Bog: the history of an Irish raised bog

Crushell, Patrick, Connolly, Andrew, Schouten, Matthijs, Mitchell, Fraser J.G.

Journal:

Irish Geography

Year:

2008

Language:

english

File:

PDF, 1.90 MB

english, 2008

30

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population

Dominguez, M., Crushell, E., Ilmarinen, T., McGovern, E., Collins, S., Chang, B., Fleming, P., Irvine, A.D., Brosnahan, D., Ulmanen, I., Murphy, N., Costigan, C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2006

Language:

english

File:

PDF, 1.65 MB

english, 2006

31

The origin and development of a minerotrophic soak on an Irish raised bog: an interpretation of depth profiles of hydrochemistry and peat chemistry

Crushell, P.H., Smolders, A.J.P., Schouten, M.G.C., Roelofs, J.G.M., van Wirdum, G.

Journal:

Year:

2009

Language:

english

File:

PDF, 1.33 MB

english, 2009

32

Short report: Intussusception associated with bacterial meningitis

Journal:

Archives of Disease in Childhood

Year:

2001

Language:

english

File:

PDF, 96 KB

english, 2001

33

Anisotropic Crystal Growth in Flat and Nonflat Systems: The Important Influence of van der Waals Contact Molecular Stacking on Crystal Growth and Dissolution

Walshe, Nicole, Crushell, Mairead, Karpinska, Jolanta, Erxleben, Andrea, McArdle, Patrick

Journal:

Crystal Growth & Design

Year:

2015

Language:

english

File:

PDF, 6.05 MB

english, 2015

34

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

Knerr, Ina, Coss, Karen Patricia, Kratzsch, Jürgen, Crushell, Ellen, Clark, Anne, Doran, Peter, Shin, Yoon, Stöckmann, Henning, Rudd, Pauline Mary, Treacy, Eileen

Journal:

Pediatric Research

Year:

2015

Language:

english

File:

PDF, 612 KB

english, 2015

35

Enteric Campylobacter: Purging Its Secrets?

Crushell, Ellen, Harty, Sinead, Sharif, Farhana, Bourke, Billy

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 2.16 MB

english, 2004

36

Interspecific Competition between Sphagnum Mosses at Different Water Tables

B. J. M. Robroek, J. Limpens, A. Breeuwer, P. H. Crushell and M. G. C. Schouten

Journal:

Functional Ecology

Year:

2007

Language:

english

File:

PDF, 1.40 MB

english, 2007

37

Irish nursing experience of discontinuing enzyme replacement therapy

Fletcher, Brona, Clancy, Caroline, Hughes, Joanne, Crushell, Ellen, Losty, Eithne

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 46 KB

english, 2016

38

Unexpected resolution of cardiomyopathy in severe alpha-mannosidosis

Bergin, Naomi Á., Fletcher, Bróna, Franklin, Orla, Crushell, Ellen

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 46 KB

english, 2016

39

European Vegetation in the 21st Century || RESTORATION OF MINEROTROPHIC VEGETATION WITHIN AN IRISH RAISED BOG SOAK SYSTEM

P.H. Crushell, M.G.C. Schouten, A.J.P. Smolders, J.G.M. Roelofs and P.S. Giller

Journal:

Biology & Environment Proceedings of the Royal Irish Academy

Year:

2006

Language:

english

File:

PDF, 3.25 MB

english, 2006

40

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

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,

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 985 KB

english, 2017

41

A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders

Smith, A., Dunne, E., Mannion, M., O’Connor, C., Knerr, I., Monavari, A. A., Hughes, J., Eustace, N., Crushell, E.

Journal:

European Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 284 KB

english, 2017

42

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

Kalim, Attia, Fitzsimons, Patricia, Till, Claudia, Fernando, Malkanthi, Mayne, Philip, Sass, Jorn Oliver, Crushell, Ellen

Journal:

Brain and Development

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

43

G82(P) Hepato-cerebral mitochondrial DNA depletion: a rare and fatal cause of prolonged neonatal jaundice

Slattery, S., Broderick, A., Fraser, B., Hughes, J., Knerr, I., Crushell, E.

Journal:

Archives of Disease in Childhood

Year:

2014

Language:

english

File:

PDF, 346 KB

english, 2014

44

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

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, Ri

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

45

G471 Somatic mosaicism in X-linked PDHA1 gene - a cause of developmental delay and epilepsy

Kutty, J., Crushell, E., King, M., Hughes, J.

Journal:

Archives of Disease in Childhood

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

46

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

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

Journal:

Journal of Nutrition and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.40 MB

english, 2017

47

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

Ehrich, Jochen, Burla, Laila, Sanz, Angel Carrasco, Crushell, Ellen, Cullu, Fügen, Fruth, Jana, Gerber-Grote, Andreas, Hoey, Hilary, Illy, Karoly, Janda, Jan, Jansen, Danielle, Kerbl, Reinhold, Mestro

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 159 KB

english, 2018

48

Prevention and Therapeutic Innovation in the Management of Child Health

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

Journal:

The Journal of Pediatrics

Year:

2019

Language:

english

File:

PDF, 198 KB

english, 2019

49

Prevention and Therapeutic Innovation in the Management of Child Health

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

Journal:

The Journal of Pediatrics

Year:

2019

File:

PDF, 198 KB

2019

50

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

Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicol

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 2.71 MB

english, 2019