Galactosaemia presenting as congenital pseudoafibrinogenaemia.
Ruiz
M
M
Hospital Nuestra Señora de La Candelaria, Santa Cruz de Tenerife, Spain.
Jover
S
S
Armas
M
M
Duque
M R
MR
Santana
C
C
Girós
M L
ML
Boleda
M D
MD
D000347:Afibrinogenemia / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005690:Galactose / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases / Q000235:genetics; D008111:Liver Function Tests; D011516:Prothrombin / Q000378:metabolism; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics
D011516:Prothrombin; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose