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Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

BMC pediatrics, 2022-10, Vol.22 (1), p.1-612, Article 612

2022

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Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis

Liver international, 2021-11, Vol.41 (11), p.2720-2728

2021

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Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.445-445, Article 445

2022

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SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

PloS one, 2013-09, Vol.8 (9), p.e74544

2013

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Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency

The Tohoku Journal of Experimental Medicine, 2019, Vol.248(1), pp.57-61

2019

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Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

PloS one, 2014-02, Vol.9 (2), p.e89267-e89267

2014

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Molecular Epidemiology of Na + -Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1

Frontiers in genetics, 2022-04, Vol.13, p.874379-874379

2022

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Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg)

Molecular medicine reports, 2019-12, Vol.20 (6), p.4915-4924

2019

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Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center

International journal of molecular medicine, 2011-07, Vol.28 (1), p.33-40

2011

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Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

Frontiers in genetics, 2019-11, Vol.10

2019

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Idiopathic eruptive macular pigmentation in a child with citrin deficiency

Pediatrics international, 2016-09, Vol.58 (9), p.902-905

2016

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Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Journal of hepatology, 2008-11, Vol.49 (5), p.810-820

2008

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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Journal of human genetics, 2008-06, Vol.53 (6), p.534-545

2008

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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

Gene, 2012-12, Vol.511 (2), p.227-234

2012

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Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report

Frontiers in pediatrics, 2018-11, Vol.6, p.354

2018

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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

BioMed research international, 2016-01, Vol.2016 (2016), p.1-7

2016

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Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

Biochimica et biophysica acta. Molecular basis of disease, 2015-09, Vol.1852 (9), p.1787-1795

2015

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Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

Scientific reports, 2016-07, Vol.6 (1), p.29732-29732, Article 29732

2016

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Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

The Tohoku Journal of Experimental Medicine, 2014, Vol.233(4), pp.275-281

2014

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Sodium taurocholate cotransporting polypeptide deficiency manifesting as cholestatic jaundice in early infancy: a complicated case study

Zhongguo dang dai er ke za zhi, 2017-03, Vol.19 (3), p.350-354

2017

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Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia

Oncotarget, 2017-12, Vol.8 (63), p.106598-106607

2017

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Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients

Journal of clinical medicine, 2022-12, Vol.11 (24), p.7313

2022

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Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

Experimental and therapeutic medicine, 2016-11, Vol.12 (5), p.3294-3300

2016

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Prenatal Diagnosis of Citrin Deficiency in a Chinese Family with a Fatal Proband

The Tohoku Journal of Experimental Medicine, 2011, Vol.225(4), pp.273-276

2011

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Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

Translational pediatrics, 2021-01, Vol.10 (1), p.204-208

2021

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Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency

Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

Molecular Epidemiology of Na + -Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1

Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg)

Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center

Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

Idiopathic eruptive macular pigmentation in a child with citrin deficiency

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

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

Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report

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

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Sodium taurocholate cotransporting polypeptide deficiency manifesting as cholestatic jaundice in early infancy: a complicated case study

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia

Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients

Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

Prenatal Diagnosis of Citrin Deficiency in a Chinese Family with a Fatal Proband

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

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