Trusted Resources: Education

Scientific literature and patient education texts

Molecular Analysis and Novel Variation Identification of Chinese Pedigrees With Mucopolysaccharidosis Using Targeted Next-Generation Sequencing

key information

source: Clinica chimica acta; international journal of clinical chemistry

year: 2022

authors: Fang X,Zhu C,Zhu X,Feng Y,Jiao Z,Duan H,Kong X,Liu N


Mucopolysaccharidosis (MPS) refers to a group of lysosomal storage disorders for which seven types and 11 subtypes are currently recognized. Targeted next-generation sequencing (NGS) offers an important method of disease typing, diagnosis, prenatal diagnosis, and treatment.

organization: Obstetrics and Gynecology Department, Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, 450052 PR China.

DOI: 10.1016/j.cca.2021.11.019

read more