Work

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Year: 2014

Type: article

Study design: Case Report

Source: PubMed

Authors: Nina Ondruskova, Tomas Honzik, Alzbeta Vondrackova, Marketa Tesarova, Jiri Zeman, Hana Hansikova

Institutions: Charles University, General University Hospital in Prague

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2098544265

FWCI: 0.992

Cites: 20

Cited by: 35

Related to: 10