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Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.162-14, Article 162

2022

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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

Journal of medical genetics, 2011-10, Vol.48 (10), p.660-668

2011

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The natural history of classic galactosemia: lessons from the GalNet registry

Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.86-86, Article 86

2019

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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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Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication

Human molecular genetics, 1998-05, Vol.7 (5), p.839-845

1998

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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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The galactosemia network (GalNet)

Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.169-170

2017

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

Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.212-220

2012

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Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic

Archives of disease in childhood, 2009-01, Vol.94 (1), p.52-54

2009

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Should children with inherited metabolic disorders receive varicella vaccination?

Archives of disease in childhood, 2011-01, Vol.96 (1), p.99-100

2011

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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

Neuropediatrics, 2004-02, Vol.35 (1), p.10

2004

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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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Negative screening tests in classical galactosaemia caused by S135L homozygosity

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.412-415

2009

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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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A comparative study of the durability and behaviour of fat lime and feebly-hydraulic lime mortars

Materials and structures, 2006-04, Vol.39 (3), p.391-398

2006

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Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

Journal of medical genetics, 2008-01, Vol.45 (1), p.55-61

2008

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Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment

Irish journal of medical science, 2013-12, Vol.182 (4), p.565-571

2013

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Early Medical Abortion - Education and Training Experiences

Irish medical journal, 2024-03, Vol.117 (3), p.930-930

2024

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Profound neurological presentation resulting from homozygosity for a mild glutaryl‐CoA dehydrogenase mutation with a minimal biochemical phenotype

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.72-74

2003

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Fatal presentation of ornithine transcarbamylase deficiency in a 62‐year‐old man and family studies

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.285-288

2004

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Sensory-motor polyneuropathy occurring in variant maple syrup urine disease

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.209-211

2008

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Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

The Journal of pediatrics, 1999-06, Vol.134 (6), p.675-680

1999

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P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease

Neuromuscular disorders : NMD, 2011, Vol.21, p.S22-S22

2011

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Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort

Molecular genetics and metabolism, 1999-09, Vol.68 (1), p.24-31

1999

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231 ESTABLISHING AN INTERVENTIONS BUNDLE TO IMPROVE INPATIENT CARE FOR PATIENTS WITH PARKINSON’S DISEASE: A MULTIDISCIPLINARY QUALITY IMPROVEMENT PROJECT

Age and ageing, 2021-11, Vol.50 (Supplement_3), p.ii9-ii41

2021

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Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

The natural history of classic galactosemia: lessons from the GalNet registry

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

Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication

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

The galactosemia network (GalNet)

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

Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic

Should children with inherited metabolic disorders receive varicella vaccination?

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

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

Negative screening tests in classical galactosaemia caused by S135L homozygosity

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

A comparative study of the durability and behaviour of fat lime and feebly-hydraulic lime mortars

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment

Early Medical Abortion - Education and Training Experiences

Profound neurological presentation resulting from homozygosity for a mild glutaryl‐CoA dehydrogenase mutation with a minimal biochemical phenotype

Fatal presentation of ornithine transcarbamylase deficiency in a 62‐year‐old man and family studies

Sensory-motor polyneuropathy occurring in variant maple syrup urine disease

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease

Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort

231 ESTABLISHING AN INTERVENTIONS BUNDLE TO IMPROVE INPATIENT CARE FOR PATIENTS WITH PARKINSON’S DISEASE: A MULTIDISCIPLINARY QUALITY IMPROVEMENT PROJECT

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