Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
Brum
Jaime Moritz
JM
Rede Sarah de Hospitais de Reabilitação, Brasília, DF, Brazil. jaime@sarah.br
Rizzo
Isabela Maria Pinto de Oliveira
IM
Mello
Walquiria Domingues de
WD
Speck-Martins
Carlos Eduardo
CE
D001284:Atrophy; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology*; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000473:pathology*; D004569:Electroencephalography; D005071:Evoked Potentials; D005260:Female; D006023:Glycoproteins / Q000097:blood / Q000172:deficiency; D006031:Glycosylation; D006801:Humans; D008279:Magnetic Resonance Imaging; D017875:Phosphotransferases (Phosphomutases) / Q000032:analysis / Q000172:deficiency*
D006023:Glycoproteins; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase