Linked Life Data

1861456

Source:http://linkedlifedata.com/resource/pubmed/id/1861456

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1991-9-3
pubmed:abstractText
We report a female infant with an isolated deficiency of beta-mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic-clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months. beta-mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
18-22
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
pubmed:affiliation
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.
pubmed:publicationType
Journal Article, Case Reports