21061399

Source:http://linkedlifedata.com/resource/pubmed/id/21061399

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0086647, umls-concept:C0205210, umls-concept:C2717879, umls-concept:C2827424
pubmed:issue	6
pubmed:dateCreated	2011-1-3
pubmed:abstractText	Mucopolysaccharidosis (MPS) IIIA (Sanfilippo syndrome type A) is a lysosomal storage disorder caused by deficiency of the enzyme sulfamidase. Information on the natural course of MPS IIIA is scarce, but is much needed in view of emerging therapies.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7707449
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Hydrolases, http://linkedlifedata.com/resource/pubmed/chemical/N-sulfoglucosamine sulfohydrolase
pubmed:status	MEDLINE
pubmed:month	Dec
pubmed:issn	1531-8249
pubmed:author	pubmed-author:BruggenwirthHennie THT, pubmed-author:HalleyDicky JDJ, pubmed-author:NeijsSanneS, pubmed-author:OlmerRenskeR, pubmed-author:PoorthuisBen JBJ, pubmed-author:RuijterGeorge J GGJ, pubmed-author:ValstarMarlies JMJ, pubmed-author:WeversRon ARA, pubmed-author:WijburgFrits AFA, pubmed-author:van DiggelenOtto POP
pubmed:issnType	Electronic
pubmed:volume	68
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	876-87
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:21061399-Adolescent, pubmed-meshheading:21061399-Adult, pubmed-meshheading:21061399-Behavioral Symptoms, pubmed-meshheading:21061399-Cells, Cultured, pubmed-meshheading:21061399-Child, pubmed-meshheading:21061399-Child, Preschool, pubmed-meshheading:21061399-Cohort Studies, pubmed-meshheading:21061399-DNA Mutational Analysis, pubmed-meshheading:21061399-Epilepsy, pubmed-meshheading:21061399-Female, pubmed-meshheading:21061399-Fibroblasts, pubmed-meshheading:21061399-Genetic Association Studies, pubmed-meshheading:21061399-Genotype, pubmed-meshheading:21061399-Hearing Disorders, pubmed-meshheading:21061399-Humans, pubmed-meshheading:21061399-Hydrolases, pubmed-meshheading:21061399-Kaplan-Meier Estimate, pubmed-meshheading:21061399-Male, pubmed-meshheading:21061399-Middle Aged, pubmed-meshheading:21061399-Mucopolysaccharidosis III, pubmed-meshheading:21061399-Mutation, pubmed-meshheading:21061399-Phenotype, pubmed-meshheading:21061399-Pregnancy, pubmed-meshheading:21061399-Regression Analysis, pubmed-meshheading:21061399-Severity of Illness Index, pubmed-meshheading:21061399-Skin, pubmed-meshheading:21061399-Sleep Disorders, pubmed-meshheading:21061399-Vision Disorders, pubmed-meshheading:21061399-Young Adult
pubmed:year	2010
pubmed:articleTitle	Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
pubmed:affiliation	Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't