Linked Life Data

3146325

Source:http://linkedlifedata.com/resource/pubmed/id/3146325

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1989-3-17
pubmed:abstractText
Our 86 cases of neuronal ceroid-lipofuscinosis (NCL) included 7 children with the infantile variant, 28 with the late infantile variant, and 51 with the juvenile variant. Thirty-one cases were drawn from a NCL registry and were not evaluated personally by the authors. Another 30 cases from the registry were not included because of inadequate data. The clinical course was subacute in most children with the infantile and late infantile variants and chronic in the juvenile variant. Sixteen of 86 cases (19%) were considered to be atypical clinically [3/7 (43%) with the infantile variant, 3/28 (11%) with the late infantile variant, and 10/51 (20%) with the juvenile variant]. Clinical variability among and between families was most striking in the juvenile variant. Pathological investigations of skin, buffy coat and/or brain showed atypical and/or more than one type of cytoplasmic inclusions in 10/50 (20%) of late infantile and juvenile variants. All of the children with the infantile variant had granular, osmiophilic profile in tissues. Biochemical studies on the glycoproteins of cultured fibroblasts in three cases of juvenile NCL showed that there was a higher proportion of one size class of N-linked oligosaccharides and a higher proportion of mannose-containing glycoproteins in NCL than in control cells. This supports previous lectin histochemical studies of glycoconjugates in skin of juvenile NCL [Wisniewski and Szumanska, 1986] and suggests that there may be defects in the processing of N-linked oligosaccharides in the glycoproteins of juvenile NCL.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1040-3787
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
27-46
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.
pubmed:affiliation
New York State Office of Mental Retardation and Developmental Disabilities, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.
pubmed:publicationType
Journal Article