Work

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests

Year: 2025

Type: article

Source: Clinical Chemistry and Laboratory Medicine (CCLM)

DOI: 10.1515/cclm-2024-1230

Authors: Roberta Damiano, Maria Della Bona, Elena Procopio, Renzo Guerrini, Alessandra Bettiol, Giancarlo la Marca

Institutions: Meyer Children's Hospital, University of Florence

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

OpenAlex ID: W4407093983

FWCI: 2.629

Cites: 16

Cited by: 5

Related to: 10