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Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is α-N acetylglucosaminidase. This enzyme is encoded by the NAGLU gene. A 9-year-old male...
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| Veröffentlicht in: | J Pediatr Genet |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Georg Thieme Verlag KG
2021
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7853908/ https://ncbi.nlm.nih.gov/pubmed/33552644 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1708555 |
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