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List of works by Eileen P Treacy

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

scientific article published on 04 November 2020

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1 ⬇️

scientific article published on 01 October 1997

Clinical utility gene card for: Trimethylaminuria ⬇️

scientific article published on November 30, 2011

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

article

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

scientific article published on August 1, 1997

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

scientific article published on December 1, 1997

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia ⬇️

scientific article published on November 7, 2011

Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

scientific article published on 22 October 2019

Leptin Levels in Children and Adults with Classic Galactosaemia ⬇️

scientific article published on November 7, 2012

Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination

scientific article published on January 1, 1992

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication ⬇️

scientific article published on May 1, 1998

Neurological complications of balloon angioplasty in children ⬇️

scientific article published on 01 April 1991

Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience ⬇️

scientific article published on July 1, 1997

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

scientific article published on 14 April 2020

The role of primary care in management of rare diseases in Ireland

scientific article published on 13 January 2020

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