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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2007-11-13
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pubmed:abstractText |
Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired degradation of heparan sulfate.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:AndermannEvaE,
pubmed-author:AndermannFrederickF,
pubmed-author:De MeirleirLindaL,
pubmed-author:HegeleRobert ARA,
pubmed-author:HensonT ATA,
pubmed-author:JansenAn C MAC,
pubmed-author:KaplanPaigeP,
pubmed-author:LeonardGabrielG,
pubmed-author:LiebaersIngeI,
pubmed-author:LissensWillyW,
pubmed-author:SilverKennethK,
pubmed-author:VeilleuxMartinM
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1629-34
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pubmed:meshHeading |
pubmed-meshheading:17998446-Adolescent,
pubmed-meshheading:17998446-Adult,
pubmed-meshheading:17998446-Aspartic Acid,
pubmed-meshheading:17998446-DNA Mutational Analysis,
pubmed-meshheading:17998446-Disease Progression,
pubmed-meshheading:17998446-Family Health,
pubmed-meshheading:17998446-Female,
pubmed-meshheading:17998446-Glutamine,
pubmed-meshheading:17998446-Glycine,
pubmed-meshheading:17998446-Humans,
pubmed-meshheading:17998446-Male,
pubmed-meshheading:17998446-Mucopolysaccharidosis III,
pubmed-meshheading:17998446-Mutation,
pubmed-meshheading:17998446-Sulfatases
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pubmed:year |
2007
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pubmed:articleTitle |
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
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pubmed:affiliation |
Department of Pediatric Neurology, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. anna.jansen@uzbrussel.be
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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