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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: Hettiarachchi, Dineshani, Nethikumara, Nilaksha, Pathirana, Bamunu Arachchi Pathiranage Sajeewani, Weththasigha, Kalum, Dissanayake, Weerabaddana Dilshani Niluka, Dissanayake, Vajira H. W.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Case Reports
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker