Morquio B disease: a case report
Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33. β-galactosidase deficiency can result in two different conditions, GM1 gangliosidosis and MBD, of which MBD ha...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
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Frontiers Media S.A.
2024-03-01
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| Edice: | Frontiers in Pediatrics |
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| On-line přístup: | https://www.frontiersin.org/articles/10.3389/fped.2024.1285414/full |
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