Linked Life Data

14739685

Source:http://linkedlifedata.com/resource/pubmed/id/14739685

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2004-1-23
pubmed:abstractText
We report two children who presented with symptoms suggestive of biotinidase deficiency. Rather than deficiency, markedly elevated serum biotinidase activities were found. Based upon literature reports of elevated biotinidase activities in children with glycogen storage disease (GSD) type Ia, we considered the latter in our differential diagnosis and subsequently confirmed GSD type Ia in both patients by enzymatic testing. GSD type Ia should be considered in children with markedly elevated serum biotinidase activity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
805-9
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
pubmed:affiliation
Department of Pediatrics, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA. bwolf@ccmckids.org
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't