Work

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

Year: 2006

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2006.08.004

Authors: Paul J. Isackson, Michael J. Bennett, Georgirene D. Vladutiu

Institutions: University at Buffalo, State University of New York, Children's Hospital of Philadelphia, University of Pennsylvania

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: W2004468224

FWCI: 2.557

Cites: 51

Cited by: 65

Related to: 10