Yuan-Zong Song Selected Research

Neonatal-onset citrullinemia type 2

10/2017	Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
12/2016	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.
1/2013	SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
10/2012	Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes.
9/2012	Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis.
3/2012	[Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes].
7/2011	Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.
5/2008	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.
1/2008	Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.
6/2007	[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].

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Yuan-Zong Song Research Topics

Disease

11	Neonatal-onset citrullinemia type 2 10/2017 - 04/2006
10	Adult-onset citrullinemia type 2 01/2019 - 11/2008
4	Obstructive Jaundice (Cholestatic Jaundice) 11/2021 - 03/2017
2	VLCAD deficiency 07/2021 - 01/2021
2	Liver Diseases (Liver Disease) 01/2021 - 01/2018
2	Jaundice (Icterus) 03/2017 - 04/2006
2	Citrullinemia 01/2013 - 01/2008
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Lactic Acidosis 01/2021
1	Anemia 01/2021
1	Hypoglycemia (Reactive Hypoglycemia) 03/2020
1	Pathologic Nystagmus 01/2019
1	GM1 Gangliosidosis (Gangliosidosis GM1) 01/2019
1	Intrahepatic Cholestasis of Pregnancy 01/2019
1	Neonatal Hyperbilirubinemia 12/2017
1	Diarrhea 09/2017
1	Acidosis 09/2017
1	Liver Failure 08/2017
1	Cholestasis 09/2012
1	Non-alcoholic Fatty Liver Disease 11/2008
1	Obesity 11/2008
1	Pancreatitis 11/2008
1	Alcoholic Fatty Liver 11/2008
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 11/2008
1	Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase) 05/2008
1	Phenylketonurias (Phenylketonuria) 05/2008
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 05/2008
1	Galactosemias (Galactosemia) 05/2008
1	Methylmalonic acidemia 05/2008
1	Hepatitis 01/2008
1	Metabolic Diseases (Metabolic Disease) 06/2007

Drug/Important Bio-Agent (IBA)

10	citrinIBA 01/2019 - 04/2006
7	aspartate-glutamate carrierIBA 09/2015 - 06/2007
4	Bile Acids and Salts (Bile Acids)IBA 01/2019 - 03/2017
4	sodium-bile acid cotransporterIBA 01/2019 - 03/2017
4	Complementary DNA (cDNA)IBA 08/2017 - 12/2012
4	Protein Isoforms (Isoforms)IBA 09/2015 - 12/2011
3	BilirubinIBA 01/2018 - 03/2017
3	DNA (Deoxyribonucleic Acid)IBA 01/2013 - 06/2007
2	Mitochondrial DNA (mtDNA)IBA 07/2021 - 01/2021
2	Lactic Acid (Lactate)FDA LinkGeneric 03/2020 - 04/2006
2	Transaminases (Aminotransferases)IBA 09/2017 - 03/2017
2	Triglycerides (Triacylglycerol)IBA 09/2016 - 09/2012
2	Messenger RNA (mRNA)IBA 10/2012 - 03/2012
1	EnzymesIBA 11/2021
1	25-hydroxyvitamin DIBA 11/2021
1	Ferritins (Ferritin)IBA 03/2020
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 03/2020
1	GalactosidasesIBA 01/2019
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 10/2017
1	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 09/2017
1	ElectrolytesIBA 09/2017
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 08/2017
1	VitaminsIBA 07/2017
1	Lactose FDA LinkGeneric 09/2016
1	Glycerol (Glycerine)FDA LinkGeneric 09/2015
1	Glycerolphosphate Dehydrogenase (Glycerol 3 Phosphate Dehydrogenase)IBA 09/2015
1	alpha-glycerophosphoric acid (sodium glycerophosphate)IBA 09/2015
1	Estradiol (Delestrogen)FDA LinkGeneric 09/2012
1	Luteinizing Hormone (Lutropin)FDA LinkGeneric 09/2012
1	AntralIBA 09/2012
1	Galactose (Galactopyranose)FDA LinkGeneric 09/2012
1	Follicle Stimulating Hormone (Follitropin)FDA Link 09/2012
1	Indicators and Reagents (Reagents)IBA 11/2008
1	Kazal Pancreatic Trypsin InhibitorIBA 11/2008
1	Therapeutic UsesIBA 05/2008
1	UreaseIBA 05/2008
1	Sepharose (Agarose)IBA 06/2007
1	AmmoniaIBA 04/2006

Therapy/Procedure

1	Telescopes 01/2019
1	Parenteral Nutrition 09/2017
1	Therapeutics 12/2016