Repository logo
 
Publication

Genes, crianças e pediatras: homocistinúria clássica

dc.contributor.authorMartins, E.
dc.contributor.authorOliveira, T.
dc.contributor.authorBandeira, A.
dc.date.accessioned2012-09-13T15:39:38Z
dc.date.available2012-09-13T15:39:38Z
dc.date.issued2012-03
dc.description.abstractABSTRACT Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present.por
dc.identifier.citationNascer e Crescer 2012; 21(1): 63-64por
dc.identifier.issn0872-0754
dc.identifier.urihttp://hdl.handle.net/10400.16/1316
dc.language.isoporpor
dc.peerreviewedyespor
dc.publisherNascer e Crescerpor
dc.titleGenes, crianças e pediatras: homocistinúria clássicapor
dc.title.alternativeGenes, children and paediatricians: Homocystinuriapor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugalpor
oaire.citation.endPage64por
oaire.citation.issue21(1)por
oaire.citation.startPage63por
oaire.citation.titleNascer e Crescerpor
oaire.citation.volume21por
rcaap.rightsopenAccesspor
rcaap.typearticlepor

Files

Original bundle
Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
13a_GenesCrincasPediatras_21-1.indd.pdf
Size:
114.68 KB
Format:
Adobe Portable Document Format
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description: