Linked Life Data

14753129

Source:http://linkedlifedata.com/resource/pubmed/id/14753129

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-2-2
pubmed:abstractText
Classical galactosaemia (Mendelian Inheritance in Man, no 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The GALT enzyme is responsible for the conversion of galactose-1-phosphate with UDP glucose to glucose-1-phosphate and UDP galactose. The gene encoding for GALT is located on chromosome 9p13. Patients present with hepatomegaly, liver failure, food intolerance, hypoglycaemia, muscle hypotonia, sepsis and cataract. Treatment involving the total restriction of lactose-containing foods is life-saving but many patients develop late complications such as problems of mental development, disorders of motor function, disorders of speech and hypergonadotrophic hypogonadism.
pubmed:commentsCorrections
pubmed:language
dut
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0028-2162
pubmed:author
pubmed:issnType
Print
pubmed:day
10
pubmed:volume
148
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
80-1
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
pubmed:affiliation
Ziekenhuis Gooi-Noord, afd. Kindergeneeskunde, Plaricum.
pubmed:publicationType
Journal Article, English Abstract, Review