rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
5
|
pubmed:dateCreated |
2011-5-2
|
pubmed:abstractText |
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess heparan and dermatan sulfates within the lysosomes of various tissues and organs, including the central nervous system. The purpose of this study was to investigate the natural progression of neurologic disease in a large cohort of patients evaluated with standardized testing at a single institution.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
AIM
|
pubmed:status |
MEDLINE
|
pubmed:month |
May
|
pubmed:issn |
1098-4275
|
pubmed:author |
|
pubmed:issnType |
Electronic
|
pubmed:volume |
127
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
e1258-65
|
pubmed:meshHeading |
pubmed-meshheading:21518713-Child,
pubmed-meshheading:21518713-Child, Preschool,
pubmed-meshheading:21518713-Cognition Disorders,
pubmed-meshheading:21518713-Cohort Studies,
pubmed-meshheading:21518713-Developmental Disabilities,
pubmed-meshheading:21518713-Disease Progression,
pubmed-meshheading:21518713-Follow-Up Studies,
pubmed-meshheading:21518713-Humans,
pubmed-meshheading:21518713-Infant,
pubmed-meshheading:21518713-Infant, Newborn,
pubmed-meshheading:21518713-Male,
pubmed-meshheading:21518713-Mental Disorders,
pubmed-meshheading:21518713-Motor Skills Disorders,
pubmed-meshheading:21518713-Mucopolysaccharidosis II,
pubmed-meshheading:21518713-Nervous System Diseases,
pubmed-meshheading:21518713-Psychometrics,
pubmed-meshheading:21518713-Retrospective Studies,
pubmed-meshheading:21518713-Risk Assessment,
pubmed-meshheading:21518713-Severity of Illness Index,
pubmed-meshheading:21518713-Survival Analysis,
pubmed-meshheading:21518713-Time Factors
|
pubmed:year |
2011
|
pubmed:articleTitle |
Natural progression of neurological disease in mucopolysaccharidosis type II.
|
pubmed:affiliation |
PO Box 7255, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
|
pubmed:publicationType |
Journal Article,
Comparative Study
|