Linked Life Data

7496176

Source:http://linkedlifedata.com/resource/pubmed/id/7496176

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1996-1-17
pubmed:abstractText
Muscle biopsy in a neonate with features of Yunis Varón syndrome revealed a vacuolar myopathy with evidence of lysosomal storage disease. Similar vacuoles were also present in heart, cartilage, central nervous system and cultured fibroblasts. Although the histologic findings in the central nervous system resembled those of infantile acid maltase deficiency, the essayed lysosomal enzymes were normal. Chromatography of urine revealed abnormal bands of unidentified oligosaccharides. This is the first report of generalized storage disease in Yunis Varón syndrome. The biochemical defect is unknown.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
423-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Generalized lysosomal storage in Yunis Varón syndrome.
pubmed:affiliation
Division of Neuromuscular Disorders, Istituto Neurologico C. Besta, Milan, Italy.
pubmed:publicationType
Journal Article, Case Reports