Work

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form

Year: 2023

Type: article

Study design: Observational Study

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2023-0298

Authors: Havva Yazıcı, Gunes Ak, Merve Yoldas Çelik, Fehime Erdem, Ayse Yuksel Yanbolu, Esra Er, Ayse Ergül Bozacı, Merve Saka Güvenç, Ayca Aykut, Asude Durmaz, Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker

Institutions: Ege University, Izmir Tepecik Eğitim ve Araştırma Hastanesi

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: W4388375797

FWCI: 0.393

Cites: 38

Cited by: 2

Related to: 9