Linked Life Data

9039516

Source:http://linkedlifedata.com/resource/pubmed/id/9039516

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1997-4-15
pubmed:abstractText
Clinical and biochemical characteristics of a female patient with familial lipoprotein lipase deficiency have been followed in short intervals before and during puberty. The proband is compound heterozygote for two missense mutations in the lipoprotein lipase gene. One mutation occurs in codon 250 (Asp250-->Asn), the other is in codon 410 (Glu410-->Lys). The residual lipoprotein lipase activity in the proband is less than 10% of controls. Before puberty the proband usually presented with moderate isolated hypertriglyceridaemia. During the initial phase of puberty a dramatic increase in the plasma concentration of both cholesterol and triglycerides was observed. During the second half of puberty a reduction of cholesterol but not of triglycerides was noticed. Conclusion: These findings show that the phenotypic expression of familial chylomicronaemia can be modified to a large extent by hormones. Furthermore they demonstrate the need for a closer clinical observation of type I patients during puberty.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
156
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
121-5
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency.
pubmed:affiliation
Klinik für Kinder und Jugendliche, Stadtspital Triemli, Zurich, Switzerland.
pubmed:publicationType
Journal Article, Case Reports