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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2016, Volume 39, Issue 5, pp. 661 - 672
Journal Article
Indian Pediatrics, ISSN 0019-6061, 10/2013, Volume 50, Issue 10, pp. 965 - 966
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of... 
Pediatrics | Newborn | Prenatal diagnosis | Medicine & Public Health | Argininosuccinate synthetase gene | Citrullinemia | Maternal and Child Health | Pediatric Surgery | UREA CYCLE DISORDERS | PEDIATRICS | Pregnancy | Pregnant women | Ligases | Mass spectrometry
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 08/2018, Volume 35, Issue 4, p. 475
To detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them. The 20 probands and their parents... 
Pregnancy | Citrullinemia - genetics | DNA Mutational Analysis | Humans | Prenatal Diagnosis | Female | Fetus | Mutation | Mitochondrial Membrane Transport Proteins - genetics
Journal Article
Obstetrics & Gynecology, ISSN 0029-7844, 02/2014, Volume 123, Issue 2, PART 2 Suppl 2, pp. 480 - 483
BACKGROUND:Abnormal liver function tests are common in pregnancy; however, liver failure is rare. Pregnancy is a catabolic state that can precipitate illness... 
UREA CYCLE DISORDERS | PATIENT | OBSTETRICS & GYNECOLOGY | Pregnancy | Young Adult | Citrullinemia - diagnosis | Diagnosis, Differential | Humans | Liver Failure, Acute - diagnosis | Female | Citrullinemia - complications | Pregnancy Complications - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
by Zhang, J and Wang, X H and Ye, Y Z and Xie, X B and Lu, Y and Ye, L J and Yu, H
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology, ISSN 1007-3418, 10/2016, Volume 24, Issue 10, p. 755
To investigate the clinical value of albumin (Alb) in the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). A retrospective... 
Organic Anion Transporters - deficiency | Tandem Mass Spectrometry | Citrullinemia - diagnosis | Albumins | Gas Chromatography-Mass Spectrometry | Humans | Citrullinemia - blood | Calcium-Binding Proteins - deficiency | Female | Retrospective Studies | Mutation | Mitochondrial Membrane Transport Proteins - genetics
Journal Article
Indian pediatrics, 10/2013, Volume 50, Issue 10, p. 965
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of... 
Citrullinemia - genetics | Citrullinemia - diagnosis | Genetic Predisposition to Disease | Abortion, Eugenic | Humans | Prenatal Diagnosis | Male | Pregnancy | Argininosuccinate Synthase - genetics | Fatal Outcome | Female | Mutation | Infant, Newborn
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2008, Volume 49, Issue 5, pp. 810 - 820
Journal Article