Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
about
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transferStructural and mechanistic insight into the basis of mucopolysaccharidosis IIIBMucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeA mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.Residual 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 UAENatural history of Sanfilippo syndrome in Spain.Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.
P2860
Q24534147-F747D68C-24CD-4A33-8905-C1599B4BF5CBQ24645419-036DA512-F4F3-4BAE-8ED2-92FA7655E12EQ34354566-A751CBFD-AE2F-4447-8BBF-F48F17F16735Q35603624-FC38053B-38F1-4B90-8836-69071CE530B1Q36821843-5FB44757-2D40-4B4A-88EB-81CE430D7BAFQ36853478-5492A730-668C-4356-AF2A-052FA86399AEQ37127697-552EC5FF-76E5-4D1C-AD7C-576DEEC17E11Q37428010-6983F9D3-3CEE-44DA-8E1D-CE8A95420801Q39676940-41F04FE6-BFF9-4229-9A43-52F0C222B6FD
P2860
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Mucopolysaccharidosis type III ...... lucosaminidase gene mutations.
@en
type
label
Mucopolysaccharidosis type III ...... lucosaminidase gene mutations.
@en
prefLabel
Mucopolysaccharidosis type III ...... lucosaminidase gene mutations.
@en
P2093
P2860
P1476
Mucopolysaccharidosis type III ...... glucosaminidase gene mutations
@en
P2093
Kleijer WJ
Steglich C
van Diggelen OP
P2860
P407
P577
1999-01-01T00:00:00Z