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pro vyhledávání: '"Asli Durmus"'
Autor:
Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101032- (2024)
Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures,
Externí odkaz:
https://doaj.org/article/9db955c19bb542af9e6fa85dfd9a33c7
