Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series
Tài liệu tham khảo
Cleary, 1993, Management of mucopolysaccharidosis type III, Arch. Dis. Child., 69, 403, 10.1136/adc.69.3.403
Valstar, 2008, Sanfilippo syndrome: a mini-review, J. Inherit. Metab. Dis., 31, 240, 10.1007/s10545-008-0838-5
Valstar, 2010, Mucopolysaccharidosis type IIIA: clinical spectrum and genotype – phenotype correlations, Ann. Neurol., 68, 876, 10.1002/ana.22092
Shapiro, 2016, A prospective natural history study of Mucopolysaccharidosis type IIIA, J. Pediatr., 170, 278, 10.1016/j.jpeds.2015.11.079
Sparrow, 1985, Diagnostic uses of the Vineland adaptive behavior scales, J. Pediatr. Psychol., 10, 215, 10.1093/jpepsy/10.2.215
Delaney, 2014, Methods of neurodevelopmental assessment in children with neurode - generative disease: Sanfilippo syndrome, JIMD Rep., 13, 129, 10.1007/8904_2013_269
Grant, 2013, Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID), J. Inherit. Metab. Dis., 36, 281, 10.1007/s10545-012-9558-y
Malcolm, 2012, Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families, Acta Paediatr., 101, 985, 10.1111/j.1651-2227.2012.02680.x