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Clin Genet 2010;78:191-4

H., Wendel, U., Wijburg, F

Funding This work was supported by the National Natural Science Foundation of China (8247143079), The Discipline Construction Project of Hunan University of Chinese Medicine (Z2023JBGS05), the Key Project of Education Bureau of Hunan Province (23A0293), the Hunan Province Science and Technology Innovation Leading Talent Project (2021RC4034), the Key Project at Central Government Level: the ability establishment of sustainable use for valuable Chinese medicine resources (2060302)

Antenatal phenotypes include facial dysmorphism, cerebral malformations, cystic dysplastic kidneys, cardiomegaly, and diffuse fatty infiltration ( The LNF of CPT II deficiency is often symptomatic shortly after birth