Article
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
Bone - 1 Feb 2020
Ferreira Carlos R, Regier Debra S, Yoon Robin, Pan Kristen S, Johnston Jean M, Yang Sandra, Spranger Jürgen W, Tifft Cynthia J
Abstract excerpt
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in GLB1 encoding a lysosomal β-galactosidase. This disease is a continuum from the severe infantile form with rapid neurological decline to the chronic adult form, which is not life-limiting. The intermediate or type 2 form can be further classified into late infantile and juvenile forms. The frequency and severity of skeletal outcomes in late...
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