Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

ABSTRACT Objectives: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). Patients and Methods: Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A “Chubby Index...

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Veröffentlicht in:	Journal of pediatric gastroenterology and nutrition 2008-08, Vol.47 (2), p.187-192
Hauptverfasser:	Chen, Hung‐Wen, Chen, Huey‐Ling, Ni, Yen‐Hsuan, Lee, Ni‐Chung, Chien, Yin‐Hsiu, Hwu, Wuh‐Liang, Huang, Yuan‐Te, Chiu, Pao‐Chin, Chang, Mei‐Hwei
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Fetoproteins - analysis Asian Continental Ancestry Group - genetics Bilirubin - analysis Biological and medical sciences Blood Chemical Analysis - methods Calcium-Binding Proteins - deficiency Case-Control Studies Cholestasis, Intrahepatic - blood Cholestasis, Intrahepatic - diagnosis Cholestasis, Intrahepatic - genetics Cholestasis, Intrahepatic - pathology Chubby face Citrin Diagnosis, Differential Face - pathology Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology Gastroenterology. Liver. Pancreas. Abdomen Humans Infant Infant, Newborn Liver Function Tests Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Membrane Transport Proteins Mitochondrial Membrane Transport Proteins Mitochondrial Proteins Mutation - genetics Neonatal intrahepatic cholestasis caused by citrin deficiency Organic Anion Transporters - deficiency Other diseases. Semiology Taiwan - epidemiology Vertebrates: anatomy and physiology, studies on body, several organs or systems
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