Publications by authors named "Eileen Treacy"

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The organizational dimension in rare and complex diseases care management: an application of RarERN Path methodology in ataxias, dystonia and phenylketonuria.
Sara Cannizzo, Vinciane Quoidbach, Leopoldo Trieste, Monika Benson, Antonio Federico, Eileen Treacy

BMC Health Serv Res· June 2025

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Psychological supports for people living with a rare disease in Ireland: an online survey-based study.
Darragh Nerney, Emer O'Malley, Caroline Kenny, Alana Ward, Geraldine Sweeney, Eileen Treacy

Ir J Med Sci· April 2025

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Bianca Panis, E Naomi Vos, Ivo Barić, Annet M Bosch, Martijn C G J Brouwers, Eileen P Treacy

Front Genet· February 2024

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Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.
Loai A Shakerdi, Barbara Gillman, Emma Corcoran, Jenny McNulty, Eileen P Treacy

Metabolites· April 2023

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The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Eileen P Treacy

Hum Reprod Update· March 2023

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An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature.
Emer Gunne, Deborah M Lambert, Alana J Ward, Daniel N Murphy, Eileen P Treacy

Eur J Hum Genet· November 2022

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Determination of the lactose and galactose content of common foods: Relevance to galactosemia.
Loai A Shakerdi, Leonie Wallace, Georgina Smyth, Nora Madden, Anne Clark, Eileen P Treacy

Food Sci Nutr· November 2022

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Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.
Loai A Shakerdi, Jenny McNulty, Barbara Gillman, Claire M McCarthy, Jessica Ivory, Eileen P Treacy

JIMD Rep· July 2022

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Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.
Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Eileen Treacy

JIMD Rep· July 2022

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Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome.
Eoghan Donlon, Jamie McGettigan, Christine Gaffney, Marzuki Wan Ahmad, Peter Boers, Eileen Treacy

Pract Neurol· June 2022

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Abnormal -glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, Matthias Gautschi, Estela Rubio-Gozalbo

JIMD Rep· September 2021

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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Daniel O'Reilly, Ellen Crushell, Joanne Hughes, Stephanie Ryan, Yvonne Rogers, Eileen P Treacy

J Inherit Metab Dis· May 2021

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Galactokinase deficiency: lessons from the GalNet registry.
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, Eileen P Treacy

Genet Med· January 2021

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Impact of trimethylaminuria on daily psychosocial functioning.
Daniel Roddy, Philomena McCarthy, Darragh Nerney, Jennifer Mulligan-Rabbitt, Edwin Smith, Eileen P Treacy

JIMD Rep· January 2021

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A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland.
Emer Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah M Lambert

Orphanet J Rare Dis· November 2020

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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.
Suja Somanadhan, Emma Nicholson, Emma Dorris, Aoife Brinkley, Avril Kennan, Eileen Treacy

HRB Open Res· November 2020

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The role of primary care in management of rare diseases in Ireland.
Niall Byrne, Jacqueline Turner, Rita Marron, Deborah M Lambert, Daniel N Murphy, Eileen P Treacy

Ir J Med Sci· August 2020

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The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, Hyung L Elfrink, Mirian C H Janssen, Eileen P Treacy

Mol Genet Metab· March 2020

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Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Mendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, Carla E M Hollak, Hidde H Huidekoper, Eileen P Treacy

Brain Commun· January 2020

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Challenges in diagnosing and managing adult patients with urea cycle disorders.
Karolina M Stepien, Tarekegn Geberhiwot, Christian J Hendriksz, Eileen P Treacy

J Inherit Metab Dis· November 2019

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Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.
Zaza Abidin, Eileen P Treacy

Int J Mol Sci· October 2019

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Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Ina Knerr, Roberto Colombo, Jill Urquhart, Ana Morais, Begona Merinero, Eileen P Treacy

J Inherit Metab Dis· September 2019

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The genetic and biochemical basis of trimethylaminuria in an Irish cohort.
Samantha Doyle, James J O'Byrne, Mandy Nesbitt, Daniel N Murphy, Zaza Abidin, Eileen P Treacy

JIMD Rep· May 2019

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Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency.
Karolina M Stepien, Wolfgang M Schmidt, Reginald E Bittner, Orna O'Toole, Brian McNamara, Eileen P Treacy

JIMD Rep· March 2019

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Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels.
Anne Clark, Christine Merrigan, Ellen Crushell, Joanne Hughes, Ina Knerr, Eileen Treacy

JIMD Rep· March 2019

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