Publication Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.
Publication Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome.
Publication Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Publication A Cochrane review of treatment for dysarthria following acquired brain injury in children and adolescents.
Publication Rehabilitation of executive skills post-childhood traumatic brain injury (TBI): A pilot intervention study.
