Biochemical characterization of β-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant

@article{Ribeiro1991BiochemicalCO,
  title={Biochemical characterization of β-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant},
  author={Maria Gil Ribeiro and Rui Pinto and M. R. Dos Santos and Maurı́cio Maia and M. Clara S{\'a} Miranda},
  journal={Journal of Inherited Metabolic Disease},
  year={1991},
  volume={14},
  pages={715-720}
}
GM2-gangliosidosis B1 variant is thought to be a rare disorder with a wide geographical and ethnic distribution. We report the biochemical findings obtained in different specimens from a group of 11 B1 variant patients originating from the north of Portugal. The biochemical data obtained seem to indicate that only one of these patients is a genetic compound… CONTINUE READING