Linked Life Data

15135428

Source:http://linkedlifedata.com/resource/pubmed/id/15135428

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-5-11
pubmed:abstractText
Hypophosphatasia is characterized by defective bone mineralization associated with impaired activity of the tissue non-specific alkaline phosphatase (TNSALP) due to mutations in the TNSALP gene. We describe a child with a mutation that has not been described up to now. CASE REPORT: A 4-year-old child presented with clinical symptoms of rickets and premature loss of decideous teeth. Reduced serum alkaline phosphatase activity and radiographic features led to the diagnosis of hypophosphatasia, which was confirmed by genetic investigation. The molecular study showed two missense mutations, of which one is a novel mutation. CONCLUSION: Hypophosphatasia is suspected in a child with rickets and premature loss of decideous teeth. Such symptoms should prompt the search of a reduced serum alkaline phosphatase activity. The clinical and molecular diagnosis of the disease is important for the genetic counseling but also for a proper determination of prognosis, as it is related to the type of mutation.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0929-693X
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
440-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
[Childhood hypophosphatasia: a case report due to a novel mutation].
pubmed:affiliation
Département de pédiatrie, UCL-cliniques universitaires Saint-Luc, 10, avenue Hippocrate, 1200 Bruxelles, Belgique. cathdraguet@ibelgique.com
pubmed:publicationType
Journal Article, English Abstract