相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Platelet Dysfunction: Status of Thrombopoietin in Thrombocytopenia Associated with Chronic Liver Failure
Edoardo G. Giannini et al.
SEMINARS IN THROMBOSIS AND HEMOSTASIS (2015)
Citrin deficiency presenting as acute liver failure in an eight-month-old infant
Mei-Hong Zhang et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2015)
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis
Rui Chen et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2013)
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants
Supom Treepongkaruna et al.
BMC GASTROENTEROLOGY (2012)
Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency
Takeyori Saheki et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China
Li Guo et al.
JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (2011)
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia
Hai-Yan Fu et al.
JOURNAL OF GASTROENTEROLOGY (2011)
Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor
Takanobu Shigeta et al.
PEDIATRIC TRANSPLANTATION (2010)
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
Hui Bein Chew et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China
Y. -Z. Song et al.
DIGESTIVE AND LIVER DISEASE (2009)
Citrin deficiency, a perplexing global disorder
David Dimmock et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
Ayako Tabata et al.
JOURNAL OF HUMAN GENETICS (2008)
Reduced carbohydrate intake in citrin-deficient subjects
T. Saheki et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
T. Ohura et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University
D Morioka et al.
LIVER TRANSPLANTATION (2005)
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
YB Lu et al.
JOURNAL OF HUMAN GENETICS (2005)
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation
A Tamamori et al.
EUROPEAN JOURNAL OF PEDIATRICS (2002)
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
Y Shigematsu et al.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2002)
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
T Saheki et al.
JOURNAL OF HUMAN GENETICS (2002)
分享论文
