Work

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0382

Authors: Sarah C. Grünert, Urs Berger, Friederike Hörster, Kathrin Schwarz, Eva Thimm, Ute Spiekerkoetter, Dorothea Haas, Anke Schumann

Institutions: University Medical Center Freiburg, Heidelberg University, Düsseldorf University Hospital, Heinrich Heine University Düsseldorf

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: W4414615974

FWCI:

Cites: 16

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