Keywords: AGC; aspartate-glutamate carrier; AN; adenine nucleotide; ANOVA; analysis of variance; Asp; aspartate; bw; body weight; cGPD; cytosolic glycerol-3-phosphate dehydrogenase; CTLN2; adult-onset type II citrullinemia; Ctrn-KO; citrin (a.k.a., Slc25a13) knocko
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: ALGS; Alagille syndrome; ALT; Alanine aminotransferase; AR; Autosomal-recessive inheritance; AST; Aspartate aminotransferase; BRIC; Benign recurrent intrahepatic cholestasis; CNV; Copy number variation; D.Bil; Direct bilirubin; DJS; Dubin-Johnson syndrome
Keywords: αKG; α-ketoglutarate; AGC; aspartate-glutamate carrier; Ala; alanine; AOA; aminooxyacetate; Arg; arginine; ASA; argininosuccinate; Asp; aspartate; Cit; citrulline; CTLN2; adult-onset type II citrullinemia; Cr; creatinine; DHAP; dihydroxyacetone phosphat
Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong
Keywords: Citrin deficiency; NICCD; FTTDCD; CTLN2; Hemangioendothelioma;
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
Keywords: CD; citrin deficiency; NICCD; neonatal intrahepatic cholestasis; CTLN2; citrullinemia type 2; FTTDCD; failure to thrive and dyslipidemia; SLC25A13; solute carrier family 25 member 13; INH; idiopathic neonatal hepatitis; ALP; alkaline phosphatase; ALT; ala
Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency
Keywords: NICCD; neonatal intrahepatic cholestasis caused by citrin deficiency; CYP7A1; cholesterol 7α-hydroxylase; CA; cholic acid; CDCA; chenodeoxycholic acid; DCA; deoxycholic acid; LCA; lithocholic acid; ROC; receiver operating characteristic; AGC; aspartate-g
AGC1/2, the mitochondrial aspartate-glutamate carriers
Keywords: AGC; aspartate/glutamate carrier; CNS; central nervous system; CTLN2; Type II citrullinemia; G3P; glycerol 3 phosphate; GOT; Glutamic-oxaloacetic transaminase; LDH; lactate dehydrogenase; MAS; malate aspartate shuttle; MCF; mitochondrial carrier family; M
Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency
Keywords: AGC; aspartate-glutamate carrier; ASS; argininosuccinate synthetase; CTLN2; adult-onset type II citrullinemia; Ctrn-KO; Slc25a13 (citrin) knockout; KO; knockout; MCT; medium-chain triglycerides; mGPD; mitochondrial glycerol-3-phosphate dehydrogenase; NI
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
Keywords: CD; citrin deficiency; cDNA; complementary Deoxyribonucleic acid; ORF; open reading frame; RT-PCR; reverse transcription-polymerase chain reaction; NICCD; neonatal intrahepatic cholestasis caused by citrin deficiency; LSM; lymphocyte separation medium; ED
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
Keywords: ALT; Alanine aminotransferase; CTLN2; Adult-onset type 2 citrullinemia; HRM; High-resolution melting; NICCD; Neonatal intrahepatic cholestasis caused by citrin deficiency; PCR; Polymerase chain reaction; SNP; Single-nucleotide polymorphism;
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study
Keywords: NICCD; Urea cycle defect; Aspartate/glutamate carrier;
High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan
Keywords: Citrullinemia; SLC25A13; NICCD; High resolution melting analysis;
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency
Keywords: AASS; α-aminoadipate δ-semialdehyde synthase; AGC; aspartate-glutamate carrier; αKG; α-ketoglutarate; ANOVA; analysis of variance; Ala; alanine; Arg; arginine; ASA; argininosuccinate; Asp; aspartate; ASS; argininosuccinate synthetase; CE/MS; capilla
Citrin deficiency, a perplexing global disorder
Keywords: Citrullinemia; CTLN2; NICCD; Therapy; Newborn screening; Intrahepatic cholestasis; Bipolar disorder; Hepatic steatosis
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
Keywords: Inborn errors of metabolism; NICCD; Neural tube defects; Gas chromatography; Mass Spectrometry
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
Keywords: AGC; aspartate-glutamate carrier; NADH; nicotinamide adenine dinucleotide; ATP; adenosine triphosphate; ASS; argininosuccinate synthetase; NICCD; neonatal intrahepatic cholestasis caused by citrin deficiency; CTLN2; adult-onset type II citrullinemia; NA
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency
Keywords: Neonatal cholestasis; Citirn deficiency; AGC; aspartate/glutamate carrier; ASS; argininosuccinate synthetase deficiency; BC; biliary cirrhosis; CA; cholic acid; CDC; chenodeoxycholic acid; CTLN2; adult-onset citrullinemia type II; EBA; extrahepatic biliar