[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases].
D002779:Cholestasis / Q000378:metabolism; D005260:Female; D006529:Hepatomegaly; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal; D008297:Male; D009542:Niemann-Pick Diseases / Q000235:genetics / Q000378:metabolism*; D013163:Splenomegaly
Forme infantile précoce, cholestatique, rapidement mortelle, de la spingomyélinose type C. A propos de 2 observations.