Results 11 to 20 of about 397 (122)

Serum procalcitonin as a marker of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [PDF]

Clinics
Neonatal Intrahepatic Cholestasis (NICCD), as the early-age stage of Citrin deficiency involving liver dysfunction, lacks efficient diagnostic markers. Procalcitonin (PCT) has been identified as a biomarker for infection as well as various organ damage.
Li Shuangjie, Ying Yu, Wenxian OUYANG
exaly   +6 more sources

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition [PDF]

Journal of Inherited Metabolic Disease
Abstract Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post‐NICCD including failure to thrive and dyslipidemia caused by ...
Johannes Häberle, Jun Kido, Georgios Makris   +2 more
exaly   +5 more sources

Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications [PDF]

BMC Pediatrics, 2019
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) has high prevalence in East Asia, and has been reported in other parts of the world. NICCD is also the most common form of genetic cholestasis among East Asians.
She Wang, Kuerbanjiang Abuduxikuer
exaly   +5 more sources

Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report [PDF]

BMC Pediatrics, 2019
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants.
Shihong Cui, Xiaoan Zhang, Linlin Zhang
exaly   +5 more sources

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review. [PDF]

Hum Mutat
Citrin deficiency (CD) is an autosomal recessive disorder caused by the absence or dysfunction of the mitochondrial transporter citrin, resulting from mutations in SLC25A13. The disease presents with age‐dependent clinical manifestations: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia by CD (FTTDCD), and an ...
Kido J, Sugawara K, Tavoulari S, Makris G, Rüfenacht V, Nakamura K, Kunji ERS, Häberle J.   +7 more
europepmc   +5 more sources

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients [PDF]

Experimental Biology and Medicine, 2017
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further ...
Chun-Ting, Lu, Qi-Ping, Shi, Ze-Jian, Li, Jiong, Li, Lie, Feng   +4 more
openaire   +3 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants [PDF]

BMC Gastroenterology, 2012
Background The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various infectious and metabolic causes, including neonatal intrahepatic cholestasis caused ...
Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurdee   +7 more
doaj   +3 more sources

Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry

International Journal of Neonatal Screening, 2018
Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate
Hiroko Shigetomi, Toju Tanaka, Masayoshi Nagao, Hiroyuki Tsutsumi   +3 more
doaj   +2 more sources

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

Medicina, 2021
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. Case report: This report describes a case of
Shu-Wei Hu, Wen-Li Lu, I-Ping Chiang, Shu-Fen Wu, Chung-Hsing Wang, An-Chyi Chen   +5 more
doaj   +2 more sources

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

Molecular Genetics and Metabolism Reports, 2018
Background and objectives: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical characterization of this disease in the Hong Kong Chinese population for the first time ...
S.C. Chong, P. Lo, C.W. Chow, L. Yuen, W.C.W. Chu, T.Y. Leung, J. Hui, F. Scaglia   +7 more
doaj   +2 more sources