Yuan Zong Song

Summary

Country: China

Publications

  1. ncbi request reprint [A case of succinic semialdehyde dehydrogenase deficiency]
    Xiao Peng Zhao
    Zhonghua Er Ke Za Zhi 41:719. 2003
  2. doi request reprint 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
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Clin Biochem 41:616-20. 2008
  3. doi request reprint Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China
    Y Z Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Dig Liver Dis 41:683-9. 2009
  4. ncbi request reprint [A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:125-8. 2006
  5. doi request reprint Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center
    Yuan Zong Song
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, No 613 Huangpu Dadao Xi, Guangzhou 510630, Guangdong, PR China
    Int J Mol Med 28:33-40. 2011
  6. ncbi request reprint [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou, China
    Zhongguo Dang Dai Er Ke Za Zhi 11:328-32. 2009
  7. pmc SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China
    Yuan Zong Song
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China
    PLoS ONE 8:e74544. 2013
  8. pmc Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
    Wei Xia Lin
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, 510630, China
    Sci Rep 6:29732. 2016
  9. doi request reprint Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency
    Zhan Hui Zhang
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Gene 511:227-34. 2012
  10. pmc Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance
    Han Shi Zeng
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P R China
    Int J Mol Med 34:1241-8. 2014

Collaborators

  • Keiko Kobayashi
  • Li Guo
  • Shigeo Kure
  • Yoshihide Sunada
  • T Zhang
  • Hao Xu
  • Yao-bang Lu
  • Zhan Hui Zhang
  • Wei Xia Lin
  • Mei Deng
  • Han Shi Zeng
  • Feng Ping Chen
  • Ying Cheng
  • Shu Tao Zhao
  • Xin Jing Zhao
  • Qi Qi Zheng
  • Wang Rong Wen
  • Heng Wen Yang
  • Zhi Nan Yin
  • Man Mao
  • Hu Hao
  • Yan Li Ma
  • Xiang Ran Cai
  • Chun Ting Lu
  • Guo Sheng Liu
  • Xiao Mei Tang
  • Qing bing Zha
  • Bing Xiao Li
  • Takeyori Saheki
  • Zhen Huan Liu
  • Ayako Tabata
  • Qing Hua Han
  • Jin Yu Deng
  • Xiao Peng Zhao
  • Qing Zhou
  • Li Zhen Kuang
  • Wei Ming Li
  • Zhi Gang Yang
  • Atsuo Kikuchi
  • Zhan Hui Zahng
  • Lie Feng
  • Shan Shan Shi
  • Xiao Min Xiao
  • Miharu Ushikai
  • Kozo Mutoh
  • Jian Sheng Sheng
  • Hong Zhi Gao
  • Fumihiko Okumura
  • Shosei Kishida
  • Mikio Iijima
  • Xin Xiao
  • Ri Jia Zhang

Detail Information

Publications32

  1. ncbi request reprint [A case of succinic semialdehyde dehydrogenase deficiency]
    Xiao Peng Zhao
    Zhonghua Er Ke Za Zhi 41:719. 2003
  2. doi request reprint 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
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Clin Biochem 41:616-20. 2008
    ..This research aims to screen IEMs in Chinese patients and to explore the cause of neural tube defects (NTDs), a congenital malformation very common in North China...
  3. doi request reprint Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China
    Y Z Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Dig Liver Dis 41:683-9. 2009
    ..Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a novel inborn error of metabolism due to dysfunction of citrin protein, and much more information about this new disease is still needed for its clinical management...
  4. ncbi request reprint [A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:125-8. 2006
    ..SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed...
  5. doi request reprint Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center
    Yuan Zong Song
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, No 613 Huangpu Dadao Xi, Guangzhou 510630, Guangdong, PR China
    Int J Mol Med 28:33-40. 2011
    ....
  6. ncbi request reprint [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou, China
    Zhongguo Dang Dai Er Ke Za Zhi 11:328-32. 2009
    ..This child presented with FTT and dyslipidemia as main clinical manifestations and this was a novel CD phenotype different from NICCD and CTLN2...
  7. pmc SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China
    Yuan Zong Song
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China
    PLoS ONE 8:e74544. 2013
    ..The analyses of SLC25A13 gene and its protein/mRNA products remain reliable tools for the definitive diagnoses of CD patients, and so far, the SLC25A13 mutation spectrum in Chinese CD patients has not been well-characterized yet...
  8. pmc Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
    Wei Xia Lin
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, 510630, China
    Sci Rep 6:29732. 2016
    ....
  9. doi request reprint Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency
    Zhan Hui Zhang
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Gene 511:227-34. 2012
    ....
  10. pmc Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance
    Han Shi Zeng
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P R China
    Int J Mol Med 34:1241-8. 2014
    ....
  11. ncbi request reprint [Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes]
    Zhan Hui Zhang
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhongguo Dang Dai Er Ke Za Zhi 14:221-5. 2012
    ..This study will provide laboratory evidence for prenatal diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) at mRNA level...
  12. pmc Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study
    Qi Qi Zheng
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Biomed Res Int 2016:4124263. 2016
    ....
  13. doi request reprint SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency
    Han Shi Zeng
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P R China
    Mol Med Rep 14:5189-5194. 2016
    ....
  14. ncbi request reprint Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency
    Zhan Hui Zhang
    Department of Pediatrics, The First Af´Čüliated Hospital, Jinan University
    Tohoku J Exp Med 233:275-81. 2014
    ..Moreover, the newly identified c.1420G>A mutation that impairs AGC2 function has enriched the mutation spectrum of human SLC25A13 gene. ..
  15. ncbi request reprint [Citrin deficiency is an important etiology for cholestatic liver disease in children]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhonghua Er Ke Za Zhi 47:624-7. 2009
    ..To explore the major etiological features of cholestatic liver disease (CLD) in children, and to investigate the molecular epidemiological distribution of SLC25A13 mutations in CLD...
  16. ncbi request reprint [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]
    Mei Deng
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 18:545-50. 2016
    ..The findings in this study expand the mutation spectrum of DGUOK gene, and provide molecular evidence for the etiologic diagnosis of the patient as well as for the genetic counseling and prenatal diagnosis in the family. ..
  17. pmc Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
    Zhan Hui Zhang
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China Central Laboratory, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China
    PLoS ONE 9:e89267. 2014
    ..615+5G>A. This study aims to investigate the effect of a novel missense mutation on the aspartate/glutamate carrier (AGC) function of citrin protein, and to explore the aberrant transcript from c.615+5G>A in the same CD infant...
  18. doi request reprint Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis
    Wei Xia Lin
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Gene 505:269-75. 2012
    ..The findings in this paper expanded the clinical and molecular spectrum of the SLC25A13 gene, and lent support to the concept that PBLs could be taken as a feasible specimen source for SLC25A13 transcriptional analysis...
  19. ncbi request reprint [Identification of a novel JAG1 mutation in a family affected by Alagille syndrome]
    Ying Cheng
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhongguo Dang Dai Er Ke Za Zhi 18:1130-1135. 2016
    ..In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed...
  20. pmc Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency
    Mei Deng
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P R China
    Exp Ther Med 12:3294-3300. 2016
    ..Ser267Phe SNP and hypercholanemia, and this information may be used to clinically identify NTCP deficiency worldwide...
  21. ncbi request reprint Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband
    Xin Jing Zhao
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China
    Tohoku J Exp Med 225:273-6. 2011
    ..Moreover, as the first trial on CD prenatal diagnosis, this study might open a novel area for clinical management of CD...
  22. ncbi request reprint [Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I]
    Ying Cheng
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 18:751-6. 2016
    ..2081T>A(p.I694N) of ATP8B1 gene, and thus PFIC1 was definitely diagnosed. The boy was followed up until he was 6 years, and jaundice did not recur, but the long-term outcome remains to be observed. ..
  23. ncbi request reprint [Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child]
    Chun Ting Lu
    Department of Endocrinology and Metabolism, First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 15:937-41. 2013
    ..PSACH was diagnosed definitively by means of COMP mutation analysis, on the basis of the child's clinical and imaging features. The non-penetrance phenomenon of COMP mutation was described for the first time in PSACH. ..
  24. ncbi request reprint [Mucopolysaccharidosis II in two brothers: case report]
    Jin Yu Deng
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:350-1. 2006
  25. ncbi request reprint [Muscle-eye-brain disease in twin sisters: case report]
    Hu Hao
    Department of Pediatrics, First Hospital Affiliated to Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:435-6. 2006
  26. ncbi request reprint [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhonghua Er Ke Za Zhi 45:408-12. 2007
    ..To date, most of the NICCD patients reported in the world are Japanese. This study aimed to explore the gene diagnosis procedure of two known SLC25A13 mutations in a pedigree with an NICCD patient from China...
  27. ncbi request reprint [Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly]
    Bing Xiao Li
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Nan Fang Yi Ke Da Xue Xue Bao 31:482-6. 2011
    ..To analyze the clinical manifestations and magnetic resonance imaging (MRI) features of lissencephaly of various types and provide clinical and imaging evidences for the clinical diagnosis of the disease...
  28. ncbi request reprint [Advances in the diagnosis and treatment of Alagille syndrome]
    Yan Li Ma
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhongguo Dang Dai Er Ke Za Zhi 16:1188-92. 2014
    ..This article reviews the recent advances in the pathogenesis, clinical presentations, diagnosis and treatment of this syndrome...
  29. ncbi request reprint [A case report of spinocerebellar ataxia]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Gungzhou, China
    Zhongguo Dang Dai Er Ke Za Zhi 9:177-8. 2007
  30. ncbi request reprint [Glycogen storage disease type I in a child with coexistent Cryptococcus histolyticus meningitis]
    Qing Hua Han
    Department of Pediatrics, First Hospital Affiliated to Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:439-40. 2006
  31. doi request reprint 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
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
    J Hum Genet 53:534-45. 2008
    ....