Published in Pediatrics on April 25, 2011
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years. Orphanet J Rare Dis (2014) 0.93
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders. J Inherit Metab Dis (2013) 0.91
Intellectual and neurological functioning in Morquio syndrome (MPS IVa). J Inherit Metab Dis (2012) 0.86
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. J Pediatr (2016) 0.85
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population. JIMD Rep (2013) 0.81
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol (2014) 0.80
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis (2016) 0.78
Newborn screening for hunter disease: a small-scale feasibility study. JIMD Rep (2013) 0.78
A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Mol Genet Metab Rep (2016) 0.76
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up. Mol Genet Metab Rep (2017) 0.75
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. PLoS One (2017) 0.75
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis. Orphanet J Rare Dis (2016) 0.75
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome). Neurol Sci (2016) 0.75
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med (2005) 4.26
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med (2004) 4.15
Sensory Experiences Questionnaire: discriminating sensory features in young children with autism, developmental delays, and typical development. J Child Psychol Psychiatry (2006) 3.15
Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol (2009) 2.88
Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years. Arch Gen Psychiatry (2011) 2.04
Neuropsychological profile of autism and the broad autism phenotype. Arch Gen Psychiatry (2009) 1.85
Trajectories of aggression from toddlerhood to age 9 predict academic and social functioning through age 12. J Child Psychol Psychiatry (2006) 1.83
Development of a mouse test for repetitive, restricted behaviors: relevance to autism. Behav Brain Res (2007) 1.71
Hyperresponsive sensory patterns in young children with autism, developmental delay, and typical development. Am J Ment Retard (2007) 1.59
Longitudinal study of amygdala volume and joint attention in 2- to 4-year-old children with autism. Arch Gen Psychiatry (2009) 1.54
Cortical gray and white brain tissue volume in adolescents and adults with autism. Biol Psychiatry (2005) 1.50
Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism. J Neurodev Disord (2009) 1.42
DTI registration in atlas based fiber analysis of infantile Krabbe disease. Neuroimage (2011) 1.38
The relationship of otitis media in early childhood to attention dimensions during the early elementary school years. J Dev Behav Pediatr (2006) 1.36
Sensory features and repetitive behaviors in children with autism and developmental delays. Autism Res (2010) 1.35
Hyporesponsiveness to social and nonsocial sensory stimuli in children with autism, children with developmental delays, and typically developing children. Dev Psychopathol (2013) 1.08
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis (2015) 1.01
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics (2006) 0.99
To what extent do joint attention, imitation, and object play behaviors in infancy predict later communication and intellectual functioning in ASD? J Autism Dev Disord (2012) 0.98
Trajectories of early brain volume development in fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry (2012) 0.98
Early treatment is associated with improved cognition in Hurler syndrome. Ann Neurol (2014) 0.97
Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy. Biol Blood Marrow Transplant (2013) 0.96
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy. Biol Blood Marrow Transplant (2007) 0.94
Prevalence and risk factor analysis for methicillin-resistant Staphylococcus aureus nasal colonization in children attending child care centers. J Clin Microbiol (2010) 0.94
Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective. Acta Paediatr Suppl (2008) 0.93
A pilot study: coordination of precision grip in children and adolescents with high functioning autism. Pediatr Phys Ther (2009) 0.93
Diffusion imaging quality control via entropy of principal direction distribution. Neuroimage (2013) 0.92
Natural history of Sanfilippo syndrome type A. J Inherit Metab Dis (2013) 0.89
Reduced relationship to cortical white matter volume revealed by tractography-based segmentation of the corpus callosum in young children with developmental delay. Am J Psychiatry (2006) 0.88
Brain volumes in psychotic youth with schizophrenia and mood disorders. J Psychiatry Neurosci (2010) 0.86
Correlation of neurodevelopmental features and MRI findings in infantile Krabbe's disease. AJR Am J Roentgenol (2009) 0.85
Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. J Pediatr (2011) 0.84
Gross motor development of children with hurler syndrome after umbilical cord blood transplantation. Phys Ther (2007) 0.84
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation. JIMD Rep (2015) 0.82
Gross motor abilities in children with Hurler syndrome. Dev Med Child Neurol (2006) 0.79
Temporal and spatial gait characteristics of children with Hurler syndrome after umbilical cord blood transplantation. Phys Ther (2007) 0.77
Neurophysiologic assessment of mucopolysaccharidosis III. Clin Neurophysiol (2006) 0.75
Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology (2015) 0.75