Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Item
http://www.wikidata.org/entity/Q33681509
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transferStructural and mechanistic insight into the basis of mucopolysaccharidosis IIIBMouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidaseMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsA rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cellsBlood-brain barrier impairment in an animal model of MPS III BMucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeResidual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIBPrevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAENovel pathologic findings associated with urinary retention in a mouse model of mucopolysaccharidosis type IIIB.Natural history of Sanfilippo syndrome in Spain.Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
P2860

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Item
http://www.wikidata.org/entity/Q33681509
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@ast
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@en
type
label
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@ast
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@en
prefLabel
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@ast
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Identification of 12 novel mut ...... opolysaccharidosis type IIIB).
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932