Get started
Author

Eileen P. Treacy

Observed names: E P Treacy, E Treacy, E. P. Treacy, E. Treacy, E.P Treacy, E.P. Treacy, Eileen P. Treacy, Eileen P Treacy, Eileen P. TREACY, Eileen Treacy, Treacy, Eileen
Observed institutions: University College Dublin, Center for Infectious Disease Research, Children's Medical Center, Royal Children's Hospital, Mayo Clinic, Tel Aviv University, Royal College of Physicians of Ireland, Washington University in St. Louis, Trinity College Dublin, Sheba Medical Center, Montreal Children's Hospital, McGill University Health Centre, Centre Hospitalier Universitaire Sainte-Justine, Mater Misericordiae University Hospital, Temple Street Children's University Hospital, Hôpital Fleurimont, Centre hospitalier de l'Université Laval, Edmond and Lily Safra Children's Hospital, MetabERN, McGill University, The University of Texas Southwestern Medical Center
ORCID: 0000-0002-6226-1615
Observed ORCID: 0000-0002-6226-1615
OpenAlex ID: A5028603190
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication
1998 · E. Treacy · Human Molecular Genetics · 228
Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
1997 · Emre Kayaalp, Eileen Treacy, et al. · The American Journal of Human Genetics · 198
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up
2016 · Lindsey Welling, Laurie E. Bernstein, et al. · Journal of Inherited Metabolic Disease · 194
PDF
The natural history of classic galactosemia: lessons from the GalNet registry
2019 · M. E. Rubio-Gozalbo, M. Haskovic, et al. · Orphanet Journal of Rare Diseases · 148
PDF
Outcomes of Siblings with Classical Galactosemia
2009 · Joanne Hughes, Stephanie Ryan, et al. · The Journal of Pediatrics · 135
Glycogen storage disease type IX: High variability in clinical phenotype
2007 · Nicholas James Beauchamp, Ann Dalton, et al. · Molecular Genetics and Metabolism · 124
Maple syrup urine disease: Interrelations between branched‐chain amino‐, oxo‐ and hydroxyacids; implications for treatment; associations with CNS dysmyelination
1991 · E. Treacy, C. L. Clow, et al. · Journal of Inherited Metabolic Disease · 110
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
2012 · K. P. Coss, P. P. Doran, et al. · Journal of Inherited Metabolic Disease · 105
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
2008 · Phillip Lee, Eileen P. Treacy, et al. · American Journal of Medical Genetics Part A · 104
Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
2004 · Y. Crow, J. McMenamin, et al. · Neuropediatrics · 89
Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase
1997 · Geoffrey N. Thompson, Betty Y.L. Hsu, et al. · New England Journal of Medicine · 89
PDF
Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort
1999 · B.R. Akerman, H. Lemass, et al. · Molecular Genetics and Metabolism · 78
Population-Specific Polymorphisms of the Human FMO3 Gene: Significance for Detoxication
2000 · John R. Cashman, Beverly R. Akerman, et al. · Drug Metabolism and Disposition · 73
Galactosemia, a Single Gene Disorder With Epigenetic Consequences
2010 · David J Coman, David W Murray, et al. · Pediatric Research · 71
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
2011 · J Uusimaa, H Jungbluth, et al. · Journal of Medical Genetics · 67
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
2015 · Jillian P. Casey, Suzanne Slattery, et al. · Journal of Inherited Metabolic Disease · 64
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
1999 · Lisa C. Sniderman, Marie Lambert, et al. · The Journal of Pediatrics · 64
Human Flavin-Containing Monooxygenase Form 3: cDNA Expression of the Enzymes Containing Amino Acid Substitutions Observed in Individuals with Trimethylaminuria
1997 · John R. Cashman, Yi-An Bi, et al. · Chemical Research in Toxicology · 63
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
2011 · K.P. Coss, J.C. Byrne, et al. · Molecular Genetics and Metabolism · 62
Fenofibrate raises plasma homocysteine levels in the fasted and fed states
2001 · Rachel Bissonnette, Eileen Treacy, et al. · Atherosclerosis · 62
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia
2001 · Vibeke Westphal, Sandra Peterson, et al. · Genetics in Medicine · 59
PDF
Challenges in diagnosing and managing adult patients with urea cycle disorders
2019 · Karolina M. Stepien, Tarekegn Geberhiwot, et al. · Journal of Inherited Metabolic Disease · 55
PDF
Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole
1994 · E. Treacy, D. Johnson, et al. · Journal of Inherited Metabolic Disease · 55
N-Glycan Abnormalities in Children with Galactosemia
2013 · Karen P. Coss, Colin P. Hawkes, et al. · Journal of Proteome Research · 53
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
1995 · R C Eisensmith, A A Goltsov, et al. · PubMed · 50
Works count: 134
Citation count: 4,079
H-index: 36
I10-index: 86
Year
Topic
Type