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Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Monosialotetrahexosylganglioside (GMI) gangliosidosis and Morquio type B (MorB) are two lysosomal storage disorders (LSDs) caused by the same enzyme deficiency, β‐galactosidase (βgal). GMI gangliosidosis, associated with GMI ganglioside accumulation, is a neurodegenerative condition characterized by...

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Detalles Bibliográficos
Autores principales: Kingma, Sandra D. K., Ceulemans, Berten, Kenis, Sandra, Jonckheere, An I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100397/
https://www.ncbi.nlm.nih.gov/pubmed/33977034
http://dx.doi.org/10.1002/jmd2.12204