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Publications by Declan O’ Rourke
P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype
GP227 Clinical Spectrum of Classical Galactosaemia Associated With Friedreich’s Ataxia in a Paediatric Cohort in the Republic of Ireland – An Update
