Linked Life Data

7343946

Source:http://linkedlifedata.com/resource/pubmed/id/7343946

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1982-8-14
pubmed:abstractText
We report follow-up studies of 17 patients with Gaucher disease observed over nearly 10 years. According to the classical subdivision in three clinical forms our cases are: 10 patients with the type 1, chronic, non neuronopathic form; 3 with type 2, acute, neuronopathic form; 4 with type three, subacute, neuronopathic form. Varying degrees of clinical severity and involvement of visceral organs and bones were observed. Possible molecular bases for the heterogeneity of pathology observed are discussed. Two prenatal diagnoses monitored in the same at risk family are reported. Observations of Brady suggesting that enzyme replacement may be useful for treatment of type 1 patients are discussed.
pubmed:language
ita
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0391-5387
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
487-94
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980) (author's transl)].
pubmed:publicationType
Journal Article, English Abstract