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Eileen P. Treacy

Mater Misericordiae University Hospital
University College Dublin
Temple University

98

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1920

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Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

2021
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Maple Syrup Urine Disease (MSUD): Clinical outcomes, metabolic control and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

2020 Journal of Inherited Metabolic Disease
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The role of primary care in management of rare diseases in Ireland

2020 Irish Journal of Medical Science
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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

2020 Molecular Genetics and Metabolism
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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases

2020
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Galactokinase deficiency: lessons from the GalNet registry.

2020 Genetics in Medicine
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Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland

2020
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Impact of trimethylaminuria on daily psychosocial functioning

2020
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A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland.

2020 Orphanet Journal of Rare Diseases
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Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

2019 International Journal of Molecular Sciences
- Zaza Abidin
- Eileen P. Treacy
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