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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Journal of Inherited Metabolic Disease, 2017-01, Vol.40 (1), p.49-74

2017

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Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1115-1127

2018

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Vitamin D Status in Irish Children and Adolescents: Value of Fortification and Supplementation

Clinical pediatrics, 2014-12, Vol.53 (14), p.1345-1351

2014

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

European journal of pediatrics, 2010-08, Vol.169 (8), p.941-949

2010

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l-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Journal of neurology, 2010, Vol.257 (1), p.146-148

2010

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Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2254-2257

2012

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Can neonatal TSH screening reflect trends in population iodine intake?

Thyroid (New York, N.Y.), 2008-08, Vol.18 (8), p.883

2008

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The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited

European journal of human genetics : EJHG, 2002-09, Vol.10 (9), p.530-538

2002

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Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Molecular genetics and metabolism, 2004-02, Vol.81 (2), p.133-136

2004

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Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Molecular genetics and metabolism, 2004-08, Vol.82 (4), p.345-347

2004

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Development of an automated kinetic Jaffé method designed to minimise bilirubin interference in plasma creatinine assays

Clinica chimica acta, 1987-09, Vol.168 (2), p.239-246

1987

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Dietary Meat Intake in Relation to Colorectal Adenoma in Asymptomatic Women

The American journal of gastroenterology, 2009-05, Vol.104 (5), p.1231-1240

2009

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Dietary Carotenoids, Serum β-Carotene, and Retinol and Risk of Lung Cancer in the Alpha-Tocopherol, Beta-Carotene Cohort Study

American journal of epidemiology, 2002-09, Vol.156 (6), p.536-547

2002

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Development of a Comprehensive Dietary Antioxidant Index and Application to Lung Cancer Risk in a Cohort of Male Smokers

American journal of epidemiology, 2004-07, Vol.160 (1), p.68-76

2004

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Use of aspirin and other nonsteroidal anti-inflammatory drugs and risk of esophageal and gastric cancer

Cancer epidemiology, biomarkers & prevention, 1998-02, Vol.7 (2), p.97-102

1998

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Feasibility of Cell-Free DNA Collection and Clonal Immunoglobulin Sequencing in South African Patients With HIV-Associated Lymphoma

JCO global oncology, 2021-04, Vol.7 (7), p.611-621

2021

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Risk of esophageal and gastric adenocarcinomas in relation to use of calcium channel blockers, asthma drugs, and other medications that promote gastroesophageal reflux

Cancer epidemiology, biomarkers & prevention, 1998-09, Vol.7 (9), p.749

1998

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Thyroid Dysfunction in Down's Syndrome and Screening for Hypothyroidism in Children and Adolescents Using Capillary TSH Measurement

Journal of Pediatric Endocrinology and Metabolism, 2008-02, Vol.21 (2), p.155-164

2008

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Objective Assessment of Urinary Incontinence in Women: Comparison of the One-Hour and 24-Hour Pad Tests

European urology, 2004-02, Vol.45 (2), p.208-212

2004

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A mutation in Bruton’s tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency

The Journal of pediatrics, 2001-07, Vol.139 (1), p.148-151

2001

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Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

European journal of human genetics : EJHG, 1999-07, Vol.7 (5), p.549-554

1999

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Potent, Selective, and Systemically-Available Inhibitors of Acyl-Coenzyme A:Cholesterol Acyl Transferase (ACAT)

Journal of medicinal chemistry, 1994-04, Vol.37 (9), p.1252-1255

1994

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Mutational spectrum of phenylketonuria in Ireland

Biochemical Society transactions, 1998-02, Vol.26 (1), p.S79

1998

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Plasma alkaline phosphatase activity in rickets of immaturity

Archives of disease in childhood, 1983-02, Vol.58 (2), p.157-158

1983

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Vitamin D Status in Irish Children and Adolescents: Value of Fortification and Supplementation

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

l-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

Can neonatal TSH screening reflect trends in population iodine intake?

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Development of an automated kinetic Jaffé method designed to minimise bilirubin interference in plasma creatinine assays

Dietary Meat Intake in Relation to Colorectal Adenoma in Asymptomatic Women

Dietary Carotenoids, Serum β-Carotene, and Retinol and Risk of Lung Cancer in the Alpha-Tocopherol, Beta-Carotene Cohort Study

Development of a Comprehensive Dietary Antioxidant Index and Application to Lung Cancer Risk in a Cohort of Male Smokers

Use of aspirin and other nonsteroidal anti-inflammatory drugs and risk of esophageal and gastric cancer

Feasibility of Cell-Free DNA Collection and Clonal Immunoglobulin Sequencing in South African Patients With HIV-Associated Lymphoma

Risk of esophageal and gastric adenocarcinomas in relation to use of calcium channel blockers, asthma drugs, and other medications that promote gastroesophageal reflux

Thyroid Dysfunction in Down's Syndrome and Screening for Hypothyroidism in Children and Adolescents Using Capillary TSH Measurement

Objective Assessment of Urinary Incontinence in Women: Comparison of the One-Hour and 24-Hour Pad Tests

A mutation in Bruton’s tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

Potent, Selective, and Systemically-Available Inhibitors of Acyl-Coenzyme A:Cholesterol Acyl Transferase (ACAT)

Mutational spectrum of phenylketonuria in Ireland

Plasma alkaline phosphatase activity in rickets of immaturity

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