1.
Med Clin (Barc)
; 88(16): 652, 1987 Apr 26.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-3298877
2.
An Esp Pediatr
; 21(7): 688-92, 1984 Nov 15.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-6524781
RESUMO
A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).