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Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation
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참고문헌 (10)
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- Pronicka E, "Post mortem identification of deoxyguanosine kinase(DGUOK)gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure", J Appl Genet, 52, pp.61~66 (2011)
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- Bonilla S, "Neonatal iron overload and tissue siderosis due to gestational alloimmune liver disease", J Hepatol, 56, pp.1351~1355 (2012)
- Shanmugam NP, "Neonatal liver failure : aetiologies and management--state of the art", Eur J Pediatr, 170, pp.573~581 (2011)
- Moreno-Luna R, "Maternal body-mass index and cord blood circulating endothelial colony-forming cells", J Pediatr, 164, pp.566~571 (2014)
- Sheflin-Findling S, "Liver transplantation for neonatal hemochromatosis : analysis of the UNOS database", Pediatr Transplant, 19, pp.164~169 (2015)
- Sundaram SS, "Outcomes after liver transplantation in young infants", J Pediatr Gastroenterol Nutr, 47, pp.486~492 (2008)
- Worthen CA, "The role of hepatic transferrin receptor 2in the regulation of iron homeostasis in the body", Front Pharmacol, 5, pp.34~ (2014)
- Bonnefont JP, "Carnitine palmitoyltransferases 1 and 2 : biochemical, molecular and medical aspects", Mol Aspects Med, 25, pp.495~520 (2004)
관련 논문AI추천
Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical PerspectiveHan-Wook Yoo한국지질동맥경화학회 · 지질·동맥경화학회지2021 · 제10권 제1호Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis강경훈, 고재성, 김우선, 문진수, 이남준, Jong Sub Choi, Jung Kyung Yoo, Peter Chun, Shin Jie Choi대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2016 · 제19권 제2호Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency고재성, 고정민, 문진수, Hyeoh Won Yoo, Jong Sub Choi, Kyung Jae Lee대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2016 · 제19권 제1호Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to TreatmentFrédéric M. Vaz, Gepke Visser, Riekelt H. Houtkooper, Ronald J.A. Wanders, Sacha Ferdinandusse한국지질동맥경화학회 · 지질·동맥경화학회지2020 · 제9권 제3호Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case ReportChung Gang Jung, Jang Hoon Lee, Yu Bin Kim대한신생아학회 · Neonatal medicine2023 · 제30권 제4호Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency기창석, 김종원, 박형두, 우혜인, 이동환, 이수연, 이용화대한진단검사의학회 · Annals of Laboratory Medicine2011 · 제31권 제1호
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