Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

AIM: Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the NAGLU gene which codes the lysosomal enzyme alpha-N-acetylglucosaminidase. The major symptoms of the disease are cognitive and neurological defects. In this study, the mole...

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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Ozkinay, F., Emecen, D.A., Kose, M., Isik, E., Bozaci, A.E., Canda, E., Tuysuz, B., Zubarioglu, T., Atik, T., Onay, H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2021
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7966861/
https://ncbi.nlm.nih.gov/pubmed/33747789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100732
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