Linked Life Data

416929

Source:http://linkedlifedata.com/resource/pubmed/id/416929

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1978-6-12
pubmed:abstractText
Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound beta-galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness and spondyloepiphyseal dysplasia, all lack visceromegaly and macular red spots. The diversity of phenotypic expression in these patients and others previously reported suggests the existence of composite genotypes (compound and double heterozygosity).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-13
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.
pubmed:publicationType
Journal Article, Case Reports