Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1977-8-12
pubmed:abstractText
Two cases of Gangliosidosis GM1 are presented. They are a child who showed psychomotor backward and generalized osteoporosis, died at 16 months, and a girl studied because of psychomotor backward when she was less than a year. This girl showed radiological vertebrae alterations similar to mucopolysaccharidosis and died when she was 7 years old. The enzymatic determinations in serum and cultured fibroblasts showed beta-galactosidase deficiency in both cases. Important storage of cerebral gangliosides with increase of the percentage of GM1 was also found in both cases. Histological alterations were found in some other organs besides the brain.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0302-4342
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
405-12
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1977
pubmed:articleTitle
[Gangliosidosis GM1. Clinical, radiologic, biochemical and histological studies in two cases (author's transl)].
pubmed:publicationType
Journal Article, English Abstract, Case Reports