Work

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA

Year: 2015

Type: article

Study design: Case Report

Source: Clinica Chimica Acta

DOI: 10.1016/j.cca.2015.08.006

Authors: Seyed Mohammad Seyedhassani, Feyzollah Hashemi-Gorji, Mahdieh Yavari, Reza Mirfakhraie

Institutions: Shahid Beheshti University, Shahid Beheshti University of Medical Sciences

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: W1168445995

FWCI: 0.429

Cites: 24

Cited by: 4

Related to: 10