Linked Life Data

3479355

Source:http://linkedlifedata.com/resource/pubmed/id/3479355

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1988-1-12
pubmed:abstractText
Recent findings in a family with X-linked recessive ichthyosis are presented. The first description of this family in the literature was given and correctly diagnosed by Csörsz in 1928. His paper can be considered one of the most widely cited proofs of the existence of X-linked ichthyosis. The extended pedigree as well as data of steroid sulfatase and arylsulfatase C determinations presented in this paper verify the diagnosis of the X-linked mode of inheritance of ichthyosis in this family. The biochemical investigations carried out on leukocytes of family members resulted not only in a confirmation of the clinico-genetic diagnosis, but they also helped to establish the heterozygous genotype of a female mentioned previously as an affected person.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0011-9075
pubmed:author
pubmed:issnType
Print
pubmed:volume
175
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
217-23
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
X-linked recessive ichthyosis. Reinvestigation of a family first described in 1928.
pubmed:affiliation
Institute of Biology, University Medical School, Debrecen, Hungary.
pubmed:publicationType
Journal Article, Case Reports