Juvenile GM2 Gangliosidosis Variant B1 : Clinical and Biochemical Study in Seven Patients

Maria Maia; D. Alves; G. Ribeiro; R. Pinto; M. C. Sa Miranda

doi:10.1055/s-2008-1071451

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Neuropediatrics 1990; 21(1): 18-23
DOI: 10.1055/s-2008-1071451

Original article

Juvenile GM₂ Gangliosidosis Variant B₁ : Clinical and Biochemical Study in Seven Patients

Maria Maia¹ , D. Alves¹ , G. Ribeiro² , R. Pinto² , M. C. Sa Miranda²

¹Hospital de crianças Maria Pia, Porto, Portugal
²Instituto de Genética Médica, Porto, Portugal

Further Information

Publication History

Publication Date:
19 March 2008 (online)

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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

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