Linked Life Data

19177047

Source:http://linkedlifedata.com/resource/pubmed/id/19177047

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-1-29
pubmed:abstractText
The natural history and clinical presentation of the perinatal-lethal Gaucher's disease, a severe variant of acute type 2 Gaucher's disease, is quite different from classic type 2 Gaucher's disease. Rare reported patients had an overlapping phenotype between these two forms confirming that phenotyping may be difficult. Here we report three patients with an intermediate phenotype. The first two patients showed at birth cholestatic jaundice, hepatosplenomegaly and hematological involvement consistent with hemophagocytosis in one patient, the death occurred from a severe liver involvement in one and lung disease in the second in the absence of neurological symptoms. The third patient displayed ichthyosis and facial dysmorphism but with neurological degeneration course and survival consistent with classic type 2 Gaucher's disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1476-5543
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
170-2
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease.
pubmed:affiliation
Paediatric Department, La Rabta Hospital, Tunis, Tunisia. hadhami.baili@laposte.net
pubmed:publicationType
Journal Article, Case Reports