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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...
Autores principales: | Kingma, Sandra D. K., Ceulemans, Berten, Kenis, Sandra, Jonckheere, An I. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2021
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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 |
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