Work

Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II

Year: 2025

Type: article

Study design: Observational Study

Source: Journal of Inherited Metabolic Disease

DOI: 10.1002/jimd.70055

Authors: Na Hao, Fengxia Yao, Danhua Li, Jingwen Zhou, Weimin Zhang, Aiping Mao, Zhixin Tian, Fei Zhao, Juntao Liu

Institutions: Chinese Academy of Medical Sciences & Peking Union Medical College, Peking Union Medical College Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4411590380

FWCI:

Cites: 45

Cited by:

Related to: 10