title: Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.
authors: *Department of Pediatrics †Medical Genetics Center ‡Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center, University of Ulsan College of Medicine §Green Cross Reference Laboratory ||Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors: Beom Hee
authors: BH
authors: Lee
authors: Yoo-Mi
authors: YM
authors: Kim
authors: Ja Hye
authors: JH
authors: Kim
authors: Gu-Hwan
authors: GH
authors: Kim
authors: Jae-Min
authors: JM
authors: Kim
authors: Joo Hyun
authors: JH
authors: Kim
authors: Kyu Ha
authors: KH
authors: Woo
authors: Song Hyun
authors: SH
authors: Yang
authors: Chong Jai
authors: CJ
authors: Kim
authors: In-Hee
authors: IH
authors: Choi
authors: Han-Wook
authors: HW
authors: Yoo
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D004040:Dietary Carbohydrates / Q000627:therapeutic use; D019587:Dietary Supplements; D018450:Disease Progression; D005192:Family Health; D016368:Frameshift Mutation; D006529:Hepatomegaly / Q000209:etiology*; D006801:Humans; D006984:Hypertrophy; D007003:Hypoglycemia / Q000178:diet therapy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D007223:Infant; D007668:Kidney / Q000473:pathology*; D008052:Lipid Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D020125:Mutation, Missense; D056910:Republic of Korea; D013163:Splenomegaly / Q000209:etiology*; D016896:Treatment Outcome; D014280:Triglycerides / Q000737:chemistry / Q000627:therapeutic use
chemical_list: D004040:Dietary Carbohydrates; D014280:Triglycerides; C577474:CPT1A protein, human; D002334:Carnitine O-Palmitoyltransferase