Eileen P. Treacy: search on Z-Library

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1

Incidence and types of sexual dysfunctions in rape and incest victims

Becker, Judith V., Skinner, Linda J., Abel, Gene G., Treacy, Eileen C.

Journal:

Journal of Sex & Marital Therapy

Year:

1982

Language:

english

File:

PDF, 654 KB

english, 1982

2

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 662 KB

english, 2018

3

Glycogen storage disease type IX: High variability in clinical phenotype

Nicholas James Beauchamp, Ann Dalton, Uma Ramaswami, Harri Niinikoski, Karine Mention, Patricio Kenny, Kaija-Leena Kolho, Julian Raiman, John Walter, Eileen Treacy, Stuart Tanner, Mark Sharrard

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 902 KB

english, 2007

4

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.

Journal:

Year:

2019

Language:

english

File:

PDF, 711 KB

english, 2019

5

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Gunne, Emer, McGarvey, Cliona, Hamilton, Karina, Treacy, Eileen, Lambert, Deborah M., Lynch, Sally Ann

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 761 KB

2020

6

Fenofibrate raises plasma homocysteine levels in the fasted and fed states

Rachel Bissonnette, Eileen Treacy, Rima Rozen, Betsie Boucher, Jeffrey S. Cohn, Jacques Genest Jr

Journal:

Atherosclerosis

Year:

2001

Language:

english

File:

PDF, 113 KB

english, 2001

7

Depressive symptoms associated with sexual assault

Becker, Judith V., Skinner, Linda J., Abel, Gene G., Axelrod, Roz, Treacy, Eileen C.

Journal:

Journal of Sex & Marital Therapy

Year:

1984

Language:

english

File:

PDF, 527 KB

english, 1984

8

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

Carter, Kevin C, Byck, Susan, Waters, Paula J, Richards, Brent, Nowacki, Piotr M, Laframboise, Rachel, Lambert, Marie, Treacy, Eileen, Scriver, Charles R

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 487 KB

english, 1998

9

Clinical utility gene card for: Trimethylaminuria – update 2014

Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 252 KB

english, 2015

10

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

Westphal, Vibeke, Peterson, Sandra, Patterson, Marc, Tournay, Anne, Blumenthal, Andrea, Treacy, Eileen P, Freeze, Hudson H

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 397 KB

english, 2001

11

In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene

Deborah M. Lambert, Orval A. Mamer, Beverley R. Akerman, Luc Choinière, Daniel Gaudet, Pavel Hamet, Eileen P. Treacy

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 86 KB

english, 2001

12

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

Michael I. Shevell, Patricia Colangelo, Eileen Treacy, Robert C. Polomeno, B. Rosenblatt

Journal:

Pediatric Neurology

Year:

1996

Language:

english

File:

PDF, 250 KB

english, 1996

13

Measurement of Trimethylamine and Trimethylamine N-Oxide Independently in Urine by Fast Atom Bombardment Mass Spectrometry

Orval A. Mamer, Luc Choinière, Eileen P. Treacy

Journal:

Analytical Biochemistry

Year:

1999

Language:

english

File:

PDF, 86 KB

english, 1999

14

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

Lisa C. Sniderman, Marie Lambert, Robert Giguère, Christiane Auray-Blais, Bernard Lemieux, Rachel Laframboise, David S. Rosenblatt, Eileen P. Treacy

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 162 KB

english, 1999

15

“Stiff Neonate” With Mitochondrial DNA Depletion and Secondary Neurotransmitter Defects

Margaret M. Moran, Nicholas M. Allen, Eileen P. Treacy, Mary D. King

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 110 KB

english, 2011

16

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

17

Galactosemia, a Single Gene Disorder With Epigenetic Consequences

Coman, David J, Murray, David W, Byrne, Jennifer C, Rudd, Pauline M, Bagaglia, Paola M, Doran, Peter D, Treacy, Eileen P

Journal:

Pediatric Research

Year:

2010

Language:

english

File:

PDF, 967 KB

english, 2010

18

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13â15 June, Dublin, Ireland 2019 - ()] Abstracts - P430âIdentifying rare disease research priorities through (RAinDRoP) a rare disease research partnership

Somanadhan, Suja, Kroll, Thilo, Doris, Emma, Nicholson, Emma, Lynch, Sally Ann, Treacy, Eileen, Brinkley, Aoife, Ennis, Sean, Awan, Atif, Kennan, Avril, Garth, Vicky Mc, Mitchell, Derick

File:

PDF, 75 KB

19

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13â15 June, Dublin, Ireland 2019 - ()] Abstracts - GP165âTowards estimating the incidence of rare diseases in a paediatric population, born in ireland in the year 2000

Gunne, Emer, McGarvey, Cliona, Hamilton, Karina, Ward, Alana, Treacy, Eileen, Lambert, Deborah, Lynch, Sally Ann

File:

PDF, 216 KB

20

Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics

Rosie O’Shea, Anne Marie Murphy, Eileen Treacy, Sally Ann Lynch, Kathryn Thirlaway, Debby Lambert

Journal:

Journal of Genetic Counseling

Year:

2011

Language:

english

File:

PDF, 366 KB

english, 2011

21

Clinical utility gene card for: Trimethylaminuria

Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 146 KB

english, 2012

22

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

23

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria

Casey, Jillian, McGettigan, Paul, Brosnahan, Donal, Curtis, Emma, Treacy, Eileen, Ennis, Sean, Lynch, Sally Ann

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 901 KB

english, 2014

24

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

Casey, Jillian P., Slattery, Suzanne, Cotter, Melanie, Monavari, A. A., Knerr, Ina, Hughes, Joanne, Treacy, Eileen P., Devaney, Deirdre, McDermott, Michael, Laffan, Eoghan, Wong, Derek, Lynch, Sally A

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

25

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

Phillip Lee, Eileen P. Treacy, Eric Crombez, Melissa Wasserstein, Lewis Waber, Jon Wolff, Udo Wendel, Alex Dorenbaum, Judith Bebchuk, Heidi Christ-Schmidt, Margretta Seashore, Marcello Giovannini, Bar

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

26

A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria

Forrest, Susan M., Knight, Melanie, Akerman, Beverley R., Cashman, John R., Treacy, Eileen P.

Journal:

Pharmacogenetics

Year:

2001

Language:

english

File:

PDF, 653 KB

english, 2001

27

Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

Abidin, Zaza, Treacy, Eileen P.

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 436 KB

english, 2019

28

Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians

Ciara Dolan, Denis C Shields, Alice Stanton, Eoin O'Brien, Deborah M Lambert, John K O'Brien, Eileen P Treacy

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 495 KB

english, 2005

29

Human Flavin-Containing Monooxygenase Form 3: cDNA Expression of the Enzymes Containing Amino Acid Substitutions Observed in Individuals with Trimethylaminuria

Cashman, John R., Bi, Yi-An, Lin, Jing, Youil, Rima, Knight, Melanie, Forrest, Susan, Treacy, Eileen

Journal:

Chemical Research in Toxicology

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

30

Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

Thompson, Geoffrey N., Hsu, Betty Y.L., Pitt, James J., Treacy, Eileen, Stanley, Charles A.

Journal:

Boston Medical and Surgical Journal

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

31

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13â15 June, Dublin, Ireland 2019 - ()] Abstracts - P627âMitochondrial disease mimics

Doyle, Samantha, Abidin, Zaza, Senanayake, Suranga, James, Stephanie, Yap, Mei, Hart, Caroline, Crushell, Ellen, Smyth, Shane, Green, Andrew, Treacy, Eileen, Lynch, Tim, Pastores, Gregory, Laffan, Aoi

File:

PDF, 74 KB

32

Outcomes of Siblings with Classical Galactosemia

Joanne Hughes, Stephanie Ryan, Deborah Lambert, Olivia Geoghegan, Anne Clark, Yvonne Rogers, Una Hendroff, Ahmad Monavari, Eilish Twomey, Eileen P. Treacy

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 665 KB

english, 2009

33

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13â15 June, Dublin, Ireland 2019 - ()] Abstracts - GP225âBetter outcomes of âhigh-riskâ screened glutaric aciduria type 1 patients give optimism to future cases diagnosed through newborn screening in ireland

Healy, Lydia, King, Graham, Lawlor, Margeurite, Hughes, Joanne, Knerr, Ina, Treacy, Eileen, Crushell, Ellen, Monavari, Ahmad

File:

PDF, 73 KB

34

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

35

Variable onset of metachromatic leukodystrophy in a Vietnamese family

Laura T Arbour, Kenneth Silver, Peter Hechtman, Eileen P Treacy, Marion B Coulter-Mackie

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 185 KB

english, 2000

36

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

Emre Kayaalp, Eileen Treacy, Paula J. Waters, Susan Byck, Piotr Nowacki, Charles R. Scriver

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 109 KB

english, 1997

37

Foster Parenting the Sexually Abused

Treacy, Eileen C., Fisher, Celia B.

Journal:

Journal of Child Sexual Abuse

Year:

1993

Language:

english

File:

PDF, 889 KB

english, 1993

38

Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 780 KB

english, 2018

39

Is There Treatment for “Genetic” Disease?

Charles R. Scriver, Eileen P. Treacy

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 160 KB

english, 1999

40

Short-chain hydroxyacyl–coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

Eileen P. Treacy, Deborah M. Lambert, Robert Barnes, Richard L. Boriack, Jerry Vockley, Laurie K. O'Brien, Patricia M. Jones, Michael J. Bennett

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

41

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

42

Challenges in diagnosing and managing adult patients with Urea Cycle Disorders

Stepien, Karolina M, Geberhiwot, Tarekegn, Hendriksz, Christian J., Treacy, Eileen P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.39 MB

english, 2019

43

Neurological complications of balloon angioplasty in children

Eileen P. Treacy, Walter J. Duncan, Michael J. Tyrrell, Noel J. Lowry

Journal:

Pediatric Cardiology

Year:

1991

Language:

english

File:

PDF, 715 KB

english, 1991

44

Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme

WATERS, Paula J., HEWSON, A. Stacy, SCRIVER, Charles R., TREACY, Eileen P., MARTINEZ, Aurora, KNAPPSKOG, Per M., PARNIAK, Michael A.

Journal:

Biochemical Society Transactions

Year:

1997

Language:

english

File:

PDF, 149 KB

english, 1997

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