Yuan-zong Song

发表

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.

T. Saheki, K. Yamamura, T. Kadowaki, 2015, Biochimica et biophysica acta.

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

T. Saheki, Keiko Kobayashi, M. Iijima, 2008, Journal of Human Genetics.

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease.

T. Saheki, T. Aoyama, Keiko Kobayashi, 2008, Journal of hepatology.

[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].

T. Saheki, Keiko Kobayashi, Xin Xiao, 2006, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype].

T. Saheki, Keiko Kobayashi, Yanling Yang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

H. Tan, Bin Wang, Yuan-zong Song, 2022, BMC Pediatrics.

Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.

Keiko Kobayashi, Yuan-zong Song, Bing-xiao Li, 2008, Clinical biochemistry.

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

Yuan-zong Song, Gui-ling Mo, Rui Liu, 2021, Translational pediatrics.

Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency

T. Saheki, Keiko Kobayashi, Sayaka Ikeda, 2008 .

Citrin deficiency

T. Saheki, M. Yazaki, Yuan-zong Song, 2020, Definitions.

Idiopathic eruptive macular pigmentation in a child with citrin deficiency

Yuan-zong Song, Yuntao Hu, Chu-Li Fu, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

[Advances in the diagnosis and treatment of Alagille syndrome].

Yuan-zong Song, Yan-li Ma, 2014, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].

W. Hwu, Keiko Kobayashi, M. Ushikai, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].

Keiko Kobayashi, M. Iijima, M. Ushikai, 2007, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients

R. Liu, Yuan-zong Song, Jing-li Tian, 2022, Journal of clinical medicine.

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

T. Saheki, C. Hendriksz, M. Iijima, 2009, Journal of Inherited Metabolic Disease.

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.

M. Ushikai, Yuan-zong Song, J. Sheng, 2009, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.