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Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

Journal of inherited metabolic disease, 2013, Vol.36 (1), p.21-27

2013

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N-terminal pro-B-type natriuretic peptide: a measure of significant patent ductus arteriosus

Archives of disease in childhood. Fetal and neonatal edition, 2008-07, Vol.93 (4), p.F257-F260

2008

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Glutaric aciduria type I: Outcome in the Republic of Ireland

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.917-920

2004

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Irish medical journal, 2020-12, Vol.112 (10), p.1016

2020

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Irish medical journal, 2019-12, Vol.112 (10), p.1016-1016

2019

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Newborn screening for homocystinuria: Irish and world experience

European journal of pediatrics, 1998-04, Vol.157 Suppl 2 (S2), p.S84-S87

1998

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Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations

Irish journal of medical science, 2016-02, Vol.185 (1), p.241-248

2016

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'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency

Irish medical journal, 2015-11, Vol.108 (10), p.312-314

2015

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Lack of awareness of risk factors for primary toxoplasmosis in pregnancy

Irish journal of medical science, 2011-12, Vol.180 (4), p.807-811

2011

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Amino acids: Analytical aspects

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.305-308

2001

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The effect of bezafibrate treatment on serum alkaline phosphatase isoenzyme activities

Metabolism, clinical and experimental, 1993-07, Vol.42 (7), p.839-842

1993

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The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Heredity, 2010-02, Vol.104 (2), p.148-154

2010

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Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency

Thrombosis and haemostasis, 1999-04, Vol.81 (4), p.502-505

1999

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What is the origin of 3‐methylglutaconic acid?

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.251-255

1999

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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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3-methylglutaconic aciduria in pregnancy

The Lancet (British edition), 1997-03, Vol.349 (9054), p.776-776

1997

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Susceptibility of pregnant women to toxoplasma infection--potential benefits for newborn screening

Irish medical journal, 2008-07, Vol.101 (7), p.220-221

2008

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Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease

Journal of human nutrition and dietetics, 1993-08, Vol.6 (4), p.295-305

1993

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Calcium and Phosphorus Metabolism in the Premature Infant

Annals of Clinical Biochemistry, 1991-03, Vol.28 (2), p.131-142

1991

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Frequency distribution of the Q188R mutation in the Irish galactosaemic population

Journal of inherited metabolic disease, 1996-01, Vol.19 (2), p.217-219

1996

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Calcium and phosphorus solubility in neonatal intravenous feeding solutions

Archives of disease in childhood, 1990-04, Vol.65 (4 Spec No), p.352-353

1990

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Evaluation of two new methods for routine measurement of alkaline phosphatase isoenzymes

Journal of clinical pathology, 1992-01, Vol.45 (1), p.68-71

1992

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Triglyceride Fatty Acid Chain Length Influences the Post Prandial Rise in Serum Intestinal Alkaline Phosphatase Activity

Annals of clinical biochemistry, 1992-05, Vol.29 (3), p.287-291

1992

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Incidence of congenital hypothyroidism over 37 Years in Ireland

Yearbook of Paediatric Endocrinology, 2019-09

2019

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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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Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

N-terminal pro-B-type natriuretic peptide: a measure of significant patent ductus arteriosus

Glutaric aciduria type I: Outcome in the Republic of Ireland

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Newborn screening for homocystinuria: Irish and world experience

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations

'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency

Lack of awareness of risk factors for primary toxoplasmosis in pregnancy

Amino acids: Analytical aspects

The effect of bezafibrate treatment on serum alkaline phosphatase isoenzyme activities

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency

What is the origin of 3‐methylglutaconic acid?

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

3-methylglutaconic aciduria in pregnancy

Susceptibility of pregnant women to toxoplasma infection--potential benefits for newborn screening

Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease

Calcium and Phosphorus Metabolism in the Premature Infant

Frequency distribution of the Q188R mutation in the Irish galactosaemic population

Calcium and phosphorus solubility in neonatal intravenous feeding solutions

Evaluation of two new methods for routine measurement of alkaline phosphatase isoenzymes

Triglyceride Fatty Acid Chain Length Influences the Post Prandial Rise in Serum Intestinal Alkaline Phosphatase Activity

Incidence of congenital hypothyroidism over 37 Years in Ireland

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

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