about
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transferMouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidaseSanfilippo syndrome: causes, consequences, and treatmentsMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsEarly neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB miceIdentification and analysis of catalytic TIM barrel domains in seven further glycoside hydrolase families.Identification of novel genes and pathways regulating SREBP transcriptional activityIdentification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIBMucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeNAGLU mutations underlying Sanfilippo syndrome type B.Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.Glycosaminoglycan storage disorders: a reviewA 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 IIIBInsulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts.Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.Epidemiology of mucopolysaccharidoses.Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B miceMucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy.Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector.Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments.Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III.Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B.MPS IIIB - Sanfilippo syndrome BA mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures.Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
The molecular basis of Sanfilippo syndrome type B
@ast
The molecular basis of Sanfilippo syndrome type B
@en
The molecular basis of Sanfilippo syndrome type B
@en-gb
The molecular basis of Sanfilippo syndrome type B
@nl
type
label
The molecular basis of Sanfilippo syndrome type B
@ast
The molecular basis of Sanfilippo syndrome type B
@en
The molecular basis of Sanfilippo syndrome type B
@en-gb
The molecular basis of Sanfilippo syndrome type B
@nl
prefLabel
The molecular basis of Sanfilippo syndrome type B
@ast
The molecular basis of Sanfilippo syndrome type B
@en
The molecular basis of Sanfilippo syndrome type B
@en-gb
The molecular basis of Sanfilippo syndrome type B
@nl
P2093
P2860
P356
P1476
The molecular basis of Sanfilippo syndrome type B
@en
P2093
P2860
P304
P356
10.1073/PNAS.93.12.6101
P407
P577
1996-06-11T00:00:00Z