Work

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

Year: 2016

Type: article

Study design: Case Report

Source: Molecular and Cellular Probes

DOI: 10.1016/j.mcp.2016.11.002

Authors: Emanuele G. Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel

Institutions: University Hospitals of the Ruhr-University of Bochum, Allgemeines Krankenhaus Celle, Ruhr University Bochum, Leibniz University Hannover, Jena University Hospital

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: American Educational Research Association

OpenAlex ID: W2549865485

FWCI: 0.933

Cites: 22

Cited by: 17

Related to: 10