Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations-Reference-Cited by-同舟云学术

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

Published:2010-11-08 Issue:6 Volume:68 Page:876-887
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Valstar Marlies J.,Neijs Sanne,Bruggenwirth Hennie T.,Olmer Renske,Ruijter George J. G.,Wevers Ron A.,van Diggelen Otto P.,Poorthuis Ben J.,Halley Dicky J.,Wijburg Frits A.

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.22092/fullpdf

Reference26 articles.

1. The frequency of lysosomal storage diseases in The Netherlands;Poorthuis;Hum Genet,1999

2. Prevalence of lysosomal storage disorders;Meikle;JAMA,1999

3. Sanfilippo syndrome: a mini-review;Valstar;J Inherit Metab Dis,2008

4. Structure and sequence of the human sulphamidase gene;Karageorgos;DNA Res,1996

5. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation;Chabas;Am J Med Genet,2001

Cited by 158 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Generation of a novel immunodeficient mouse model of Mucopolysaccharidosis type IIIA to test human stem cell-based therapies;Molecular Genetics and Metabolism;2024-09

2. Evaluation of neuroretina following i.v. or intra‐CSF AAV9 gene replacement in mice with MPS IIIA, a childhood dementia;CNS Neuroscience & Therapeutics;2024-08

3. Causes of death in mucopolysaccharidoses;Molecular Genetics and Metabolism;2024-07

4. Systemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease;EMBO Molecular Medicine;2024-06-18

5. Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA;Molecular Genetics and Metabolism;2024-02