Linked Life Data

3119343

Source:http://linkedlifedata.com/resource/pubmed/id/3119343

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1988-1-7
pubmed:abstractText
A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of alpha-neuraminidase and beta-galactosidase. The patient's clinical features are compared with the few cases so far described in the literature.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
146
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
528-31
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Clinical heterogeneity in infantile galactosialidosis.
pubmed:affiliation
Kinderklinik und Kinder-Poliklinic der Universität, Mainz, Federal Republic of Germany.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't