title: Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.
abstract: 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.
authors: Hospital de crianças Maria Pia, Porto, Portugal.
authors: M
authors: M
authors: Maia
authors: D
authors: D
authors: Alves
authors: G
authors: G
authors: Ribeiro
authors: R
authors: R
authors: Pinto
authors: M C
authors: MC
authors: Sa Miranda
mesh_terms: 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*
chemical_list: D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases