Mutational analysis of 105 mucopolysaccharidosis type VI patients-Reference-Cited by-同舟云学术

Mutational analysis of 105 mucopolysaccharidosis type VI patients

Published:2007-09 Issue:9 Volume:28 Page:897-903
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Karageorgos Litsa,Brooks Doug A.,Pollard Anthony,Melville Elizabeth L.,Hein Leanne K.,Clements Peter R.,Ketteridge David,Swiedler Stuart J.,Beck Michael,Giugliani Roberto,Harmatz Paul,Wraith James E.,Guffon Nathalie,Leão Teles Elisa,Sá Miranda M. Clara,Hopwood John J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Structure of a human lysosomal sulfatase;Bond;Structure,1997

2. Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients;Brooks;Am J Hum Genet,1991

3. An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum;Brooks;Mol Genet Metab,2005

4. Human N-acetylgalactosamine 4-sulphate sulphatase: purification, monoclonal antibody production and native and subunit Mr values;Gibson;Biochem J,1987

5. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome);Harmatz;J Pediatr,2004

Cited by 112 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. The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil);Journal of Community Genetics;2024-08-19

2. The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil);2024-02-21

3. The clinical and genotypic–phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study;Annals of Medicine & Surgery;2023-09-06

4. Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix;Genome Biology;2023-07-21

5. Elucidating the functional impact of G137V and G144R variants in Maroteaux Lamy’s Syndrome by Molecular Dynamics Simulation;Molecular Diversity;2023-07-17