GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
Author:
Affiliation:
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2021/018/JGM018-01-03.pdf
Reference48 articles.
1. Suzuki Y, Oshima A, Nanba E. β-Galactosidase deficiency (β-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS. eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3775-809.
2. Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients
3. Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1 ‐related dysostosis multiplex
4. Joint and Bone Disease in Mucopolysaccharidoses VI and VII: Identification of New Therapeutic Targets and BioMarkers Using Animal Models
5. GM1-Ganglioside-Mediated Activation of the Unfolded Protein Response Causes Neuronal Death in a Neurodegenerative Gangliosidosis
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