GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.

Article

GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.

Clinical neuropathology - 1 Jan 2000

Benninger C, Ullrich-BotT B, Zhan S S, Schmitt H P

Abstract excerpt

After the introduction of 4-methylumbelliferyl-2-acetamido-2-deoxy-beta A-D-glucopyranoside (4MUG) and its sulfated form (4MUGS) in the pre- and postnatal diagnosis and carrier identification of gangliosidosis genotypes, infrequent forms of the GM2 gangliosidosis Type B (Tay-Sachs disease) have b...

Topics

Brain
Follow-Up Studies
Genotype
Germany
Humans
Hungary
Infant
Lysosomal Storage Diseases
Male
Tay-Sachs Disease
Tomography, X-Ray Computed

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