Linked Life Data

12872845

Source:http://linkedlifedata.com/resource/pubmed/id/12872845

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-7-22
pubmed:abstractText
We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.
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
75-9
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).
pubmed:affiliation
Childrens Hospital Los Angeles, Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California 90027, USA. wng@chla.usc.edu
pubmed:publicationType
Journal Article, Case Reports