%0 Journal Article
%T Genes, crian£¿as e pediatras
%A Bandeira
%A Anabela
%A Mota
%A Concei£¿£¿o
%A Quelhas
%A Dulce
%A Loureiro
%A Mar¨ªlia
%A Martins
%A Esmeralda
%J Nascer e Crescer - Revista do Hospital de Crian£¿as Maria Pia
%D 2011
%I Scientific Electronic Library Online
%X a 14 month-old boy presented with failure to thrive and severe mental and motor development delay. on physical examination he presented with severe axial hypotonia and dysmorphic syndrome: peculiar facies with small eyes, micrognathia, raised intermamilar distance. he also had multissistemic involvement with nephritic proteinuria, hypertrophy cardiomiopathy with peri-cardial effusion, raised transaminases, functional deficit of coagulation proteins and unspecific changes of retinal pigmentation. this case illustrates the typical presentation of congenital disorder of glycosilation (cdg) type ia.
%K congenital disorder of glycosilation
%K glycosylated transferring.
%U http://www.scielo.gpeari.mctes.pt/scielo.php?script=sci_abstract&pid=S0872-07542011000200013&lng=en&nrm=iso&tlng=en