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Temporal offset between precipitation and water uptake of Mediterranean pine trees varies with elevation and season

The Science of the total environment, 2021-02, Vol.755 (Pt 2), p.142539, Article 142539

2021

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Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

Frontiers in genetics, 2022-09, Vol.13, p.945296-945296

2022

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An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

European journal of pediatrics, 2023-01, Vol.182 (1), p.31-40

2023

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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.498-505

2009

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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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Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.343-352

2009

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Medium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening

Irish medical journal, 2023-03, Vol.116 (3), p.743-743

2023

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The 'accelerator hypothesis' : relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus

Diabetologia, 2005-12, Vol.48 (12), p.2501-2504

2005

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A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders

European journal of pediatrics, 2017, Vol.176 (1), p.83-88

2017

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.488-497

2009

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Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.177-187

2014

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Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.849-863

2018

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Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences

Irish medical journal, 2019-01, Vol.112 (1), p.858

2019

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Propionic acidemia: neonatal versus selective metabolic screening

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.41-49

2012

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G82(P) Hepato-cerebral mitochondrial DNA depletion: a rare and fatal cause of prolonged neonatal jaundice

Archives of disease in childhood, 2014-04, Vol.99 (Suppl 1), p.A35-A35

2014

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Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry

Journal of nutrition and metabolism, 2018-01, Vol.2018, p.5124035-10

2018

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Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis

Annals of nutrition and metabolism, 2013-01, Vol.63 (1/2), p.168-173

2013

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Rotavirus Gastroenteritis is Associated with Increased Morbidity and Mortality in Children with Inherited Metabolic Disorders

Irish medical journal, 2017-04, Vol.110 (4), p.546-546

2017

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Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Journal of nutrition and metabolism, 2018-01, Vol.2018, p.6352919-11

2018

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Syncytin-1 and glial cells missing a: hypoxia-induced deregulated gene expression along with disordered cell fusion in primary term human trophoblasts

Gynecologic and obstetric investigation, 2009-01, Vol.68 (1), p.9

2009

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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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Leptin and ghrelin expression in adipose tissues and serum levels in gastric banding patients

European journal of clinical investigation, 2006-06, Vol.36 (6), p.389-394

2006

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G86(P) Clinical Phenotype associated with recessive mutations in LARS gene

Archives of disease in childhood, 2014-04, Vol.99 (Suppl 1), p.A36-A37

2014

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Diagnosis, therapy and control of diabetes mellitus in children and adolescents

Experimental and clinical endocrinology & diabetes, 2014-07, Vol.122 (7), p.425

2014

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Endocrine responses to the oral ingestion of a physiological dose of essential amino acids in humans

Journal of endocrinology, 2003-11, Vol.179 (2), p.237-244

2003

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Temporal offset between precipitation and water uptake of Mediterranean pine trees varies with elevation and season

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

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

Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men

Medium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening

The 'accelerator hypothesis' : relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus

A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences

Propionic acidemia: neonatal versus selective metabolic screening

G82(P) Hepato-cerebral mitochondrial DNA depletion: a rare and fatal cause of prolonged neonatal jaundice

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry

Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis

Rotavirus Gastroenteritis is Associated with Increased Morbidity and Mortality in Children with Inherited Metabolic Disorders

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Syncytin-1 and glial cells missing a: hypoxia-induced deregulated gene expression along with disordered cell fusion in primary term human trophoblasts

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

Leptin and ghrelin expression in adipose tissues and serum levels in gastric banding patients

G86(P) Clinical Phenotype associated with recessive mutations in LARS gene

Diagnosis, therapy and control of diabetes mellitus in children and adolescents

Endocrine responses to the oral ingestion of a physiological dose of essential amino acids in humans

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