Crushell E - Search Results

1

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

Forman EB, Lynch SA, Knerr I, Monavari A, Hughes J, Boruah R, Green A, Crushell E. Forman EB, et al. Among authors: crushell e. Eur J Pediatr. 2023 Jan;182(1):31-40. doi: 10.1007/s00431-022-04697-0. Epub 2022 Nov 14. Eur J Pediatr. 2023. PMID: 36374302 Review.

2

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.

Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Hauffa B, Cragun DL, Hopkin RJ, Adachi M, Arlt W. Shackleton C, et al. Among authors: crushell e. Am J Med Genet A. 2004 Jul 30;128A(3):223-31. doi: 10.1002/ajmg.a.30104. Am J Med Genet A. 2004. PMID: 15216541

3

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

Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S. Casey JP, et al. Among authors: crushell e. Mol Genet Metab. 2012 Jul;106(3):351-8. doi: 10.1016/j.ymgme.2012.04.017. Epub 2012 Apr 26. Mol Genet Metab. 2012. PMID: 22607940

4

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

Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP. Coss KP, et al. Among authors: crushell e. J Inherit Metab Dis. 2013 Jan;36(1):21-7. doi: 10.1007/s10545-012-9507-9. Epub 2012 Jul 3. J Inherit Metab Dis. 2013. PMID: 22870861

5

N-glycan abnormalities in children with galactosemia.

Coss KP, Hawkes CP, Adamczyk B, Stöckmann H, Crushell E, Saldova R, Knerr I, Rubio-Gozalbo ME, Monavari AA, Rudd PM, Treacy EP. Coss KP, et al. Among authors: crushell e. J Proteome Res. 2014 Feb 7;13(2):385-94. doi: 10.1021/pr4008305. Epub 2013 Dec 20. J Proteome Res. 2014. PMID: 24359113

6

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

Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E. Casey JP, et al. Among authors: crushell e. J Inherit Metab Dis. 2015 Nov;38(6):1085-92. doi: 10.1007/s10545-015-9849-1. Epub 2015 Apr 28. J Inherit Metab Dis. 2015. PMID: 25917789

7

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

Knerr I, Coss KP, Kratzsch J, Crushell E, Clark A, Doran P, Shin Y, Stöckmann H, Rudd PM, Treacy E. Knerr I, et al. Among authors: crushell e. Pediatr Res. 2015 Sep;78(3):272-9. doi: 10.1038/pr.2015.107. Epub 2015 Jun 8. Pediatr Res. 2015. PMID: 26053138

8

Friedreich Ataxia in Classical Galactosaemia.

Neville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D, Knerr I, Lynch SA, Crushell E. Neville S, et al. Among authors: crushell e. JIMD Rep. 2016;26:1-5. doi: 10.1007/8904_2015_477. Epub 2015 Jul 29. JIMD Rep. 2016. PMID: 26219880 Free PMC article.

9

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Casey JP, Crushell E, Thompson K, Twomey E, He L, Ennis S, Philip RK, Taylor RW, King MD, Lynch SA. Casey JP, et al. Among authors: crushell e. JIMD Rep. 2016;26:13-9. doi: 10.1007/8904_2015_479. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238252 Free PMC article.

10

'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency.

Ventzke A, Hoffmann J, Crushell E, Monavari A, Mayne PD, Knerr I. Ventzke A, et al. Among authors: crushell e. Ir Med J. 2015 Nov-Dec;108(10):312-4. Ir Med J. 2015. PMID: 26817292

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