Treacy EP - Search Results

1

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. Among authors: treacy ep. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.

2

Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.

Treacy E, Clow CL, Reade TR, Chitayat D, Mamer OA, Scriver CR. Treacy E, et al. J Inherit Metab Dis. 1992;15(1):121-35. doi: 10.1007/BF01800354. J Inherit Metab Dis. 1992. PMID: 1583867

3

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548

4

Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.

Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S. Treacy EP, et al. J Inherit Metab Dis. 2003;26(1):72-4. doi: 10.1023/a:1024087832406. J Inherit Metab Dis. 2003. PMID: 12872844 No abstract available.

5

Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.

Rohininath T, Costello DJ, Lynch T, Monavari A, Tuchman M, Treacy EP. Rohininath T, et al. Among authors: treacy ep. J Inherit Metab Dis. 2004;27(2):285-8. doi: 10.1023/b:boli.0000028840.97261.c6. J Inherit Metab Dis. 2004. PMID: 15243986

6

Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence.

Ryan E, King MD, Rustin P, Mayne PD, Brown GK, Monavari AA, Walsh R, Treacy EP. Ryan E, et al. Among authors: treacy ep. Ir Med J. 2006 Oct;99(9):262-4. Ir Med J. 2006. PMID: 17144232

7

Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.

Harty S, King MD, McCoy B, Costigan D, Treacy EP. Harty S, et al. Among authors: treacy ep. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S209-11. doi: 10.1007/s10545-008-0751-y. Epub 2008 Oct 16. J Inherit Metab Dis. 2008. PMID: 18855118

8

Outcomes of siblings with classical galactosemia.

Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP. Hughes J, et al. Among authors: treacy ep. J Pediatr. 2009 May;154(5):721-6. doi: 10.1016/j.jpeds.2008.11.052. Epub 2009 Feb 1. J Pediatr. 2009. PMID: 19181333

9

Negative screening tests in classical galactosaemia caused by S135L homozygosity.

Crushell E, Chukwu J, Mayne P, Blatny J, Treacy EP. Crushell E, et al. Among authors: treacy ep. J Inherit Metab Dis. 2009 Jun;32(3):412-5. doi: 10.1007/s10545-009-1081-4. Epub 2009 May 8. J Inherit Metab Dis. 2009. PMID: 19418241

10

Glycogen storage disease type III in the Irish population.

Crushell E, Treacy EP, Dawe J, Durkie M, Beauchamp NJ. Crushell E, et al. Among authors: treacy ep. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S215-8. doi: 10.1007/s10545-010-9096-4. Epub 2010 May 20. J Inherit Metab Dis. 2010. PMID: 20490926

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