共 135 条
[1]
Shapiro EG(2015)Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment Mol Genet Metab 116 61-68
[2]
Nestrasil I(2015)Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study Blood 125 2164-2172
[3]
Rudser K(2014)Early treatment is associated with improved cognition in Hurler syndrome Ann Neurol 76 747-753
[4]
Delaney K(2017)Mucopolysaccharidosis type I newborn screening: best practices for diagnosis and management J Pediatr 182 363-370
[5]
Kovac V(2017)Early disease progression of hurler syndrome Orphanet J Rare Dis 12 32-176
[6]
Ahmed A(1999)Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III Curr Opin Neurol 12 167-287
[7]
Yund B(1996)Outcome of unrelated donor bone marrow transplantation in 40 children with hurler syndrome Blood 87 4894-69
[8]
Orchard PJ(1998)Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children Blood 91 2601-75
[9]
Eisengart J(2016)A prospective natural history study of mucopolysaccharidosis type IIIA J Pediatr 170 278-29
[10]
Niklason GR(2016)Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions Mol Genet Metab 118 65-190