Published in Metab Brain Dis on April 14, 2012
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Orphanet J Rare Dis (2013) 0.96
Ganglioside biochemistry. ISRN Biochem (2012) 0.89
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Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis (2013) 0.81
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases. Metab Brain Dis (2013) 0.81
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I. JIMD Rep (2016) 0.78
Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase. Mol Ther (2014) 0.77
Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration. PLoS One (2015) 0.76
TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome. Bone Marrow Transplant (2015) 0.76
Neuroinflammatory paradigms in lysosomal storage diseases. Front Neurosci (2015) 0.76
Proteomic analysis of mucopolysaccharidosis I mouse brain with two-dimensional polyacrylamide gel electrophoresis. Mol Genet Metab (2016) 0.75
Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI. J Pediatr Rehabil Med (2014) 0.75
Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature. Surg Neurol Int (2017) 0.75