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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Hettiarachchi, Dineshani, Nethikumara, Nilaksha, Pathirana, Bamunu Arachchi Pathiranage Sajeewani, Weththasigha, Kalum, Dissanayake, Weerabaddana Dilshani Niluka, Dissanayake, Vajira H. W.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha: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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