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■ Abbreviation / Long Form : CD / citrin deficiency

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Total Number of Papers: 17
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Abbreviation:   CD  (>> Co-occurring Abbreviation)
Long Form:   citrin deficiency
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No. Year Title Co-occurring Abbreviation
2021 Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia. ---
2021 Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China. PCR
2020 Citrin deficiency mimicking mitochondrial depletion syndrome. ---
2020 Hypoketotic hypoglycemia in citrin deficiency: a case report. ---
2019 Bioinformatic and functional analysis of promoter region of human SLC25A13 gene. ---
2019 Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13. ---
2019 [A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency]. ---
2016 Malfunction in Mitochondrial beta-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem Cells. PPAR-alpha, WT-iPSCs
2016 Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. NICCD
10  2015 An Adolescent Case of Citrin Deficiency With Severe Anorexia Mimicking Anorexia Nervosa. AN
11  2014 Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). AGC, NICCD
12  2014 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. NICCD
13  2014 Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency. AGC2
14  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. AGC2, NICCD
15  2012 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. ASVs, PBLs
16  2011 Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband. AGC2, NICCD
17  2009 [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. FTT, NICCD