analbuminemia


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Words related to analbuminemia

an abnormally low level of albumin in the blood serum

References in periodicals archive ?
Analbuminemia produced by a novel splicing mutation.
Influence of methodology on the detection and diagnosis of congenital analbuminemia.
The molecular diagnosis of analbuminemia is based on the identification of the causative mutation.
We describe a novel splicing mutation that is the cause of analbuminemia in a 1-year-old female infant, the 1st child of apparently nonconsanguineous parents, born and living in Bartin (Turkey).
These results showed that the mutation we report, for which we suggest the name Bartin, affects pre-mRNA maturation by inactivating the 5' splice site sequence at the 11th exon-intron boundary of the albumin gene, and is a previously unreported mutation causing analbuminemia.
Congenital analbuminemia is attributable to defects in the gene coding for HSA.
In previously reported cases of analbuminemia attributable to aberrant splicing, the consequences of the defect at the mRNA level were not evaluated (13,14).
In summary, we report the first case of congenital analbuminemia attributable to compound heterozygosity for 2 new mutations in the HSA gene.
We describe a novel molecular defect causing analbuminemia in a 5-year-old girl, the first child of a couple from El Jadida, Morocco.
The existence of analbuminemia is suspected when persistent unexplained hypoproteinemia is observed, and the diagnosis is confirmed by the absence of an albumin band in the serum protein electrophoresis pattern (3).
In a continuation of our study of this disorder, we report here the molecular defect that is the cause of congenital analbuminemia in four, apparently unrelated, individuals.
All four presented with low circulating albumin, but the values were >1 g/L, which is conventionally accepted as indicative of analbuminemia.
in conditions ranging from severe NTI to analbuminemia (7, 58)].
Dye-binding albumin methods have falsely indicated the presence of albumin in analbuminemia in a rat model (17) and in a case report (18); however, few analytical details were reported.
Serum protein electrophoresis performed at 10 weeks (patient DN) and 12 weeks (patient KB) revealed an absence of an albumin band (0-3 g/L), and the diagnosis of congenital analbuminemia was considered.