A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous va...

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Vydáno v:Clin Case Rep
Hlavní autoři: Hettiarachchi, Dineshani, Nethikumara, Nilaksha, Pathirana, Bamunu Arachchi Pathiranage Sajeewani, Weththasigha, Kalum, Dissanayake, Weerabaddana Dilshani Niluka, Dissanayake, Vajira H. W.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5986016/
https://ncbi.nlm.nih.gov/pubmed/29881562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1521
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