Work

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

Year: 2012

Type: article

Study design: Case Report

Source: Gene

DOI: 10.1016/j.gene.2012.02.004

Authors: F. Majer, H. Vlaskova, L. Krol, T. Kalina, M. Kubanek, L. Stolnaya, L. Dvorakova, M. Elleder, J. Sikora

Institutions: Charles University, Institute of Clinical and Experimental Medicine

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: W2138178486

FWCI: 1.131

Cites: 66

Cited by: 27

Related to: 10