Work

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Year: 2018

Type: article

Source: Neurology

DOI: 10.1212/wnl.0000000000006165

Authors: John Vissing, H. Orhan Akman, Jan Aasly, Stephen G. Kahler, Carlos A. Bacino, Salvatore DiMauro, Ronald G. Haller

Institutions: University of Copenhagen, Baylor College of Medicine, Norwegian University of Science and Technology, University of Arkansas Medical Center, Texas Health Dallas, St Olav's University Hospital, Institute for Exercise and Environmental Medicine, Columbia University, University of Arkansas for Medical Sciences, The University of Texas Southwestern Medical Center

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2886531908

FWCI: 1.283

Cites: 29

Cited by: 17

Related to: 10