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Publications by Ellen Crushell
Newborn Screening for Homocystinurias: Recent Recommendations Versus Current Practice
Journal of Inherited Metabolic Disease
Genetics
GP225 Better Outcomes of ‘High-Risk’ Screened Glutaric Aciduria Type 1 Patients Give Optimism to Future Cases Diagnosed Through Newborn Screening in Ireland
P426 Profound Metabolic Acidosis and Hypertriglyceridaemia in Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Synthase- 2 Deficiency (HMGCS2D)
GP226 Tetrahydrobiopterin Disorders in Ireland: A Case Series of 7 Patients
P627 Mitochondrial Disease Mimics
P77 Reye-Like Syndrome and Severe Carnitine Deficiency in a Boy With Autism Spectrum Disorder and Restricted Diet
GP227 Clinical Spectrum of Classical Galactosaemia Associated With Friedreich’s Ataxia in a Paediatric Cohort in the Republic of Ireland – An Update
