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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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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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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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Citrin缺陷病患儿体格和神经心理发育状况

中国当代儿科杂志, 2021-12, Vol.23 (12), p.1262-1266

2021

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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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Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

Zhongguo dang dai er ke za zhi, 2018-04, Vol.20 (4), p.279-284

2018

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Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1

Zhongguo dang dai er ke za zhi, 2017-08, Vol.19 (8), p.913-920

2017

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DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review

Zhongguo dang dai er ke za zhi, 2020-03, Vol.22 (3), p.274-279

2020

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Parameters solution to attitude calculation for FY-2 in regional observation

Hong wai yu hao mi bo xue bao, 2014-04, Vol.33 (2), p.188-191

2014

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Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome

Zhongguo dang dai er ke za zhi, 2019-01, Vol.21 (1), p.64-70

2019

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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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Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II

Zhongguo dang dai er ke za zhi, 2018-09, Vol.20 (9), p.758-764

2018

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Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome

Zhongguo dang dai er ke za zhi, 2016-06, Vol.18 (6), p.545-550

2016

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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, p.4124263-7

2016

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Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child

Zhongguo dang dai er ke za zhi, 2013-11, Vol.15 (11), p.937

2013

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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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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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Auckland libraries as a multicultural bridge in New Zealand: Perceptions of new immigrant library users

Global knowledge, memory and communication, 2019-09, Vol.68 (6/7), p.581-600

2019

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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

Oncotarget, 2017-10, Vol.8 (50), p.87182-87193

2017

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Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13

European journal of medical genetics, 2021-03, Vol.64 (3), p.104145-104145, Article 104145

2021

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Rapid differentiation of human umbilical cord-derived mesenchymal stem cells into insulin-secreting cells under the sole induction of biological products

Sheng li hsüeh pao, 2010-02, Vol.62 (1), p.73-78

2010

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Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis

Gene, 2012-09, Vol.505 (2), p.269-275

2012

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Uniformity improvement of visible multi-sensor images obtained by FY-2 satellite: Uniformity improvement of visible multi-sensor images obtained by FY-2 satellite

Hong wai yu hao mi bo xue bao, 2012-03, Vol.30 (2), p.189-192

2012

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Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China

Translational pediatrics, 2021-06, Vol.10 (6), p.1658-1667

2021

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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

Molecular medicine reports, 2016-12, Vol.14 (6), p.5189-5194

2016

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

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

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

Citrin缺陷病患儿体格和神经心理发育状况

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

Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1

DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review

Parameters solution to attitude calculation for FY-2 in regional observation

Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome

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

Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II

Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome

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

Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child

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

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

Auckland libraries as a multicultural bridge in New Zealand: Perceptions of new immigrant library users

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

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13

Rapid differentiation of human umbilical cord-derived mesenchymal stem cells into insulin-secreting cells under the sole induction of biological products

Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis

Uniformity improvement of visible multi-sensor images obtained by FY-2 satellite: Uniformity improvement of visible multi-sensor images obtained by FY-2 satellite

Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China

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

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