Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis

GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1 gangliosidosis is a neurodegenerative disorde...

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Bibliographic Details
Main Authors: Iskren Menkovic, Monika Williams, Neelam Makhijani, Ruhan Wei, Sarah P. Young, Areeg El-Gharbawy, Ashlee R. Stiles
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
GM1 gangliosidosis
Alkaline phosphatase
Keratan sulfate
Skeletal survey
Glycosaminoglycan
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000060

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http://www.sciencedirect.com/science/article/pii/S2214426925000060

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