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Gaucher disease and Lupus: a rare association?

2016-12Journal article Restricted
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dc.contributor.authorJerónimo, Teresa
dc.contributor.authorCabrita, Ana
dc.contributor.authorPimentel, Ana
dc.contributor.authorVidinha, Joana
dc.contributor.authorFragoso, Andre
dc.contributor.authorSantos, Viriato
dc.contributor.authorBernardo, Idalecio
dc.contributor.authorViana, Helena
dc.contributor.authorCarvalho, Fernanda
dc.contributor.authorBrito, Helena
dc.contributor.authorLazaro, Mario
dc.contributor.authorNeves, Pedro Leao
dc.date.accessioned2017-04-07T15:55:47Z
dc.date.available2017-04-07T15:55:47Z
dc.date.issued2016-12
dc.description.abstractGaucher disease (GD), is an autosomal recessive lysosomal storage disease that is due to mutations in the glucocerebrosidase (GC) gene, with a prevalence of 1/57,000 to 1/75,000 births worldwide and significantly more common among the Ashkenazi Jewish heritage. GD is categorized into three clinical types4 and the clinical manifestations result from the accumulation of the lipid-laden macrophages in the spleen, liver, bone, bone marrow, leading to impairment of central nervous system in the most severe cases.
dc.identifier.doi10.1016/j.nefro.2016.05.014
dc.identifier.issn0211-6995
dc.identifier.urihttp://hdl.handle.net/10400.1/9218
dc.language.isoeng
dc.peerreviewedyes
dc.relation.isbasedonWOS:000392046800026
dc.titleGaucher disease and Lupus: a rare association?
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage721
oaire.citation.issue6
oaire.citation.startPage719
oaire.citation.titleNefrologia
oaire.citation.volume36
rcaap.rightsrestrictedAccess
rcaap.typearticle

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