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Neuropediatrics 1990; 21(1): 18-23
DOI: 10.1055/s-2008-1071451
DOI: 10.1055/s-2008-1071451
Original article
© Georg Thieme Verlag KG Stuttgart · New York
Juvenile GM2 Gangliosidosis Variant B1 : Clinical and Biochemical Study in Seven Patients
Further Information
Publication History
Publication Date:
19 March 2008 (online)
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.
Key words
GM2 - Gangliosidosis B1 variant - β-hexosaminidase A