Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.
We describe seven patients from five different families with GM2 gangliosidosis, variant B1. To our knowledge these are the first juvenile cases reported in the literature.
Maia
M
M
Hospital de crianças Maria Pia, Porto, Portugal.
Alves
D
D
Ribeiro
G
G
Pinto
R
R
Sa Miranda
M C
MC
D000367:Age Factors; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology; D013661:Tay-Sachs Disease / Q000201:enzymology* / Q000473:pathology; D001616:beta-Galactosidase / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency*
D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases