Title : Myelination arrest demonstrated using magnetic resonance imaging in a child with type I GM1 gangliosidosis.

Pub. Date : 1998 Apr

PMID : 9585685






1 Functional Relationships(s)
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1 An 18-month-old girl was diagnosed as having GM1 gangliosidosis, on the basis of the clinical symptoms of muscle stiffness, developmental retardation, hepatosplenomegaly, and kyphoscoliosis and a laboratory study that revealed a deficiency in the lysosomal degradative enzyme beta-galactosidase. G(M1) Ganglioside galactosidase beta 1 Homo sapiens