Treacy, Eileen C. : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Campagne de collecte 15 septembre 2024 – 1 octobre 2024

Z-Library est une des plus grandes bibliothèques en ligne dans le monde, avec le stockage de plus de 17,000,000 livres et plus de 84,837,000 articles. Nous encourageons l'accès libre de chacun à la littérature. Aujourd'hui (15 septembre 2024) nous faisons un appel de fonds à tous ceux qui veulent contribuer encore plus au soutien et au développement de notre projet.

Les téléchargements SANS LIMITE sont aussi (au cours de 31 jours après la date de don) disponibles pour TOUS les utilisateurs qui soient en mesure de soutenir le projet pendant la période de collecte de fonds jusqu'au 1 octobre 2024.

C'est quoi, la collecte de fonds?En savoir plus

Faire un don

Livres
Articles (44)
Les plus populaires
Liste
- Liste
- Tableau

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

Année:

1982

Langue:

english

Fichier:

PDF, 654 KB

english, 1982

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

Année:

2007

Langue:

english

Fichier:

PDF, 902 KB

english, 2007

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

Année:

1984

Langue:

english

Fichier:

PDF, 527 KB

english, 1984

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

Année:

2018

Langue:

english

Fichier:

PDF, 662 KB

english, 2018

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:

JIMD Reports

Année:

2019

Langue:

english

Fichier:

PDF, 711 KB

english, 2019

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

Année:

2020

Fichier:

PDF, 761 KB

2020

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

Année:

2008

Langue:

english

Fichier:

PDF, 115 KB

english, 2008

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

Année:

1999

Langue:

english

Fichier:

PDF, 86 KB

english, 1999

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

Année:

2005

Langue:

english

Fichier:

PDF, 495 KB

english, 2005

Neurological complications of balloon angioplasty in children

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

Journal:

Pediatric Cardiology

Année:

1991

Langue:

english

Fichier:

PDF, 715 KB

english, 1991

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

Année:

2011

Langue:

english

Fichier:

PDF, 366 KB

english, 2011

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

Année:

1998

Langue:

english

Fichier:

PDF, 487 KB

english, 1998

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

Année:

2009

Langue:

english

Fichier:

PDF, 665 KB

english, 2009

Is There Treatment for “Genetic” Disease?

Charles R. Scriver, Eileen P. Treacy

Journal:

Molecular Genetics and Metabolism

Année:

1999

Langue:

english

Fichier:

PDF, 160 KB

english, 1999

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

Année:

2001

Langue:

english

Fichier:

PDF, 86 KB

english, 2001

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

Année:

2008

Langue:

english

Fichier:

PDF, 181 KB

english, 2008

“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

Année:

2011

Langue:

english

Fichier:

PDF, 110 KB

english, 2011

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

Année:

1999

Langue:

english

Fichier:

PDF, 162 KB

english, 1999

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

Année:

2000

Langue:

english

Fichier:

PDF, 185 KB

english, 2000

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

Année:

1996

Langue:

english

Fichier:

PDF, 250 KB

english, 1996

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

Année:

2000

Langue:

english

Fichier:

PDF, 48 KB

english, 2000

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

Année:

1997

Langue:

english

Fichier:

PDF, 109 KB

english, 1997

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

Année:

2001

Langue:

english

Fichier:

PDF, 113 KB

english, 2001

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

Année:

2010

Langue:

english

Fichier:

PDF, 116 KB

english, 2010

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

Année:

2014

Langue:

english

Fichier:

PDF, 901 KB

english, 2014

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

Année:

1997

Langue:

english

Fichier:

PDF, 91 KB

english, 1997

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

Année:

2014

Langue:

english

Fichier:

PDF, 2.24 MB

english, 2014

Clinical utility gene card for: Trimethylaminuria

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

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 146 KB

english, 2012

Foster Parenting the Sexually Abused

Treacy, Eileen C., Fisher, Celia B.

Journal:

Journal of Child Sexual Abuse

Année:

1993

Langue:

english

Fichier:

PDF, 889 KB

english, 1993

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

Année:

2010

Langue:

english

Fichier:

PDF, 967 KB

english, 2010

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

Année:

2015

Langue:

english

Fichier:

PDF, 612 KB

english, 2015

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

Année:

1997

Langue:

english

Fichier:

PDF, 80 KB

english, 1997

Clinical utility gene card for: Trimethylaminuria – update 2014

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

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 252 KB

english, 2015

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.31 MB

english, 2015

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

Année:

2001

Langue:

english

Fichier:

PDF, 397 KB

english, 2001

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

Année:

2001

Langue:

english

Fichier:

PDF, 653 KB

english, 2001

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

Année:

1997

Langue:

english

Fichier:

PDF, 149 KB

english, 1997

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

Année:

2018

Langue:

english

Fichier:

PDF, 780 KB

english, 2018

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

Année:

2019

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2019

Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

Abidin, Zaza, Treacy, Eileen P.

Journal:

International Journal of Molecular Sciences

Année:

2019

Langue:

english

Fichier:

PDF, 436 KB

english, 2019

[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

Fichier:

PDF, 75 KB

[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

Fichier:

PDF, 74 KB

[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

Fichier:

PDF, 216 KB

[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

Fichier:

PDF, 73 KB