Work

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

Year: 2020

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2020.10.007

Authors: Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Y.W. Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J. Friez, Katie Clarkson, Akhilesh Pandey, Julie R. Jones, Eva Morava

Institutions: Mayo Clinic, VIB-KU Leuven Center for Cancer Biology, KU Leuven, Tulane University, Manipal Academy of Higher Education, Institute of Bioinformatics, Greenwood Genetic Center, Stanford University

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Wellcome Trust, Rare Diseases Clinical Research Network, The Wellcome Trust DBT India Alliance, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences

Awards: G2349438362, G6498005065, G7300629457, G8762761747

OpenAlex ID: W3093401150

FWCI: 1.587

Cites: 38

Cited by: 25

Related to: 10