Source:http://linkedlifedata.com/resource/pubmed/id/18769927
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2008-12-17
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pubmed:abstractText |
Hypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by mutations in the gene encoding the tissue-nonspecific alkaline phosphatase. Apart from problems in bone mineralization, growth failure, and premature loss of decidual teeth, the infantile and the childhood types of HPP are associated with premature fusion of cranial sutures.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1433-0350
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
217-23
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pubmed:meshHeading |
pubmed-meshheading:18769927-Alkaline Phosphatase,
pubmed-meshheading:18769927-Child, Preschool,
pubmed-meshheading:18769927-Craniosynostoses,
pubmed-meshheading:18769927-Female,
pubmed-meshheading:18769927-Humans,
pubmed-meshheading:18769927-Hypophosphatasia,
pubmed-meshheading:18769927-Infant,
pubmed-meshheading:18769927-Intracranial Hypertension,
pubmed-meshheading:18769927-Male,
pubmed-meshheading:18769927-Mutation,
pubmed-meshheading:18769927-Syringomyelia
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pubmed:year |
2009
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pubmed:articleTitle |
Neurosurgical aspects of childhood hypophosphatasia.
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pubmed:affiliation |
Section of Pediatric Neurosurgery, University of Würzburg, Josef-Schneider- Str. 11, 97080, Würzburg, Germany. Collmann.H@nch.uni-wuerzburg.de
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pubmed:publicationType |
Journal Article,
Case Reports
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