Linked Life Data

6693130

Source:http://linkedlifedata.com/resource/pubmed/id/6693130

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1984-3-19
pubmed:abstractText
Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxylase and/or a loading test with hepta-deuterophenylalanine. We conclude that most of the patients with moderately elevated serum phenylalanine should have the genotype hyperphenylalaninaemia/phenylketonuria, i.e. they are compound heterozygotes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
405-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Compound heterozygotes in hyperphenylalaninaemia.
pubmed:publicationType
Journal Article, Case Reports