Work

Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

Year: 2004

Type: article

Study design: Case Report

Source: The Journal of Pediatrics

DOI: 10.1016/j.jpeds.2004.07.024

Authors: Andreas R. Janecke, Susanne Dertinger, Uwe-Peter Ketelsen, Lothar Bereuter, Burkhard Simma, Thomas Müller, Wolfgang Vogel, Felix A. Offner

Institutions: Innsbruck Medical University, Universität Innsbruck, University Medical Center Freiburg, Landeskrankenhaus Feldkirch, University Hospital Innsbruck

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: W1973471908

FWCI: 0.917

Cites: 24

Cited by: 36

Related to: 10