Linked Life Data

107556

Source:http://linkedlifedata.com/resource/pubmed/id/107556

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8-9
pubmed:dateCreated
1979-6-11
pubmed:abstractText
Three children born of consanguineous parents had Lafora's disease and two of them had been studied clinically, pathologically and biochemically. The autosomal recessive transmission of the disease is confirmed by the familial study and the parents present no phenotypic anomaly of the disease. Electroclinical data are discussed with regard to the early differential diagnosis between this entity and idiopathic generalised epilepsy and myoclonic epilepsy without Lafora's bodies. Iodine spectrum of the cerebral and hepatic abnormal deposits suggest that Lafora's bodies mainly consist of long chains glycogen similar to amylopectin.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0035-3787
pubmed:author
pubmed:issnType
Print
pubmed:volume
134
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
523-40
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[2 familial cases of Lafora disease. Clinical, electroencephalographic and pathologic study].
pubmed:publicationType
Journal Article, English Abstract, Case Reports