[Sandhoff disease: description of a case].
D005347:Fibroblasts / Q000201:enzymology; D006596:Hexosaminidases / Q000097:blood* / Q000172:deficiency; D006801:Humans; D007223:Infant; D008297:Male; D012497:Sandhoff Disease / Q000175:diagnosis*; D012867:Skin / Q000201:enzymology
D006596:Hexosaminidases
La malattia di Sandhoff: descrizione di un caso.