Molecular genetic assay of mucopolysaccharidosis IVA in South China-Reference-Cited by-同舟云学术

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Molecular genetic assay of mucopolysaccharidosis IVA in South China

Published:2013-12 Issue:1 Volume:532 Page:46-52
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

He Dengmin,Huang Yonglan,Ou Zhiying,Sheng Huiying,Li Sheyong,Zhao Xiaoyuan,Li Ru,Zheng Jipeng,Liu Li

Funder

BioMarin Pharmaceutical Inc., Guangdong Provincial Bureau of Science and Technology

11th Five-year Plan Period for Science and Technology

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference21 articles.

1. Mucopolysaccharidosis type I: identification of alpha-l-iduronidase mutations in Tunisian families;Chkioua;Arch. Pediatr.,2007

2. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue;de Jong;Clin. Chem.,1992

3. Mucopolysaccharidosis type IVA N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases;Fukuda;J. Clin. Invest.,1992

4. Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-Acetylgalactosamine-6-sulfate sulfatase gene;Fukuda;Hum. Mutat.,1996

5. Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis;Huang;Chin. J. Contemp. Pediatr.,2012

Cited by 7 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. A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences;Annals of Human Genetics;2022-08-24

2. Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA;Journal of Inherited Metabolic Disease;2022-03-07

3. Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype;Gene;2019-07

4. Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis;Prenatal Diagnosis;2018-07-17

5. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease;Gene;2017-02

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