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- Meningoccal carriage surveillance
- Water quality aquatic environment and human health-mapping of the prevalence of Cryptosporidium in the Irish environment
- Microarray expression studies and glycobiology studies in Galactosaemia.
- Biomarin-sponsored MPSVI clinical surveillance programme
- A real-time PCR assay for detection of Haemophilus influenzae
- Prevalence of MRSA Carriage in children attending the Emergency Department and associated risk factors
- Screening respiratory tract samples for the presence of Streptococcus pneumonia as part of surveillance to determine the likely protection afforded by new pneumococcal vaccines.
- Irish principal Investigator for SHS, international study, clinical trial for the use of LNAAs (Large Neutral Amino Acids) in the treatment of PKU
- A study to evaluate the safety and efficiency of Lanaflex 11 in improving Plasma phenylalanine levels in PKU subjects who are non compliant with a phe-restricted diet
- Biomarin sponsored international extension clinical trial of the use of Kuvan, ‘PKU008’
- Genzyme-sponsored MPS1 and Fabry disease outcome registries
- Outcome of patients with Maple Syrup Urine Disease in a screened population in the Republic of Ireland, 1972-2011.
- Assessment of biochemical profiles during metabolic decompensation in 14 patients with Maple Syrup Urine Disease (MSUD)
- International collaboration on the Hunter Outcome Survey (HOS) and studying local outcome of patients with Hunter Syndrome receiving Enzyme Replacement Therapy.
- The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh Syndrome
- A rare disease of childhood: incidence of mucolipidosis type 11(1-Cell Disease) in the Irish population
- Neuropsychological functioning and neuroimaging study of adults with HCU, with satisfactory and poor metabolic control detected on newborn screening and individuals with HCU not detected on newborn screening
- Neuropsychological functioning in adults with Phenylketonuria with satisfactory and poor metabolic control
- Identifying an autosomal recessive gene causing mitochondrial disease in 3 related families
- Liberalisation of diet in galactosaemia: clinical, biochemical and gene expression study
- Evaluating the processes of care & outcomes of children in hospital (EPOCH): a cluster randomized trial of the Bedside Paediatric Early Warning System
- Differentiation of B-Thalassaemia Minor and Iron Deficiency Anaemia in a Paediatric Population using RBC Indices
- Finding the gene causing Facio-audio Symphalangism in two sets of monozygotic twins?
- Kawasaki disease in Ireland 2008 (study extension).
- To identify the genetic basis of three conditions a) primary cilary dyskinesia b) autosomal recessive microcephaly and c) autosomal recessive cardiomyopathy and retinopathy