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1 . Academic Journal
A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency
저자
by
Hui Lin
;
Hong Jiang
;
Qiang Chen
;
Xiang Pan
;
Mei Deng
, et al.
소스
Discover Oncology, Vol 15, Iss 1, Pp 1-7 (2024)
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7 . Academic Journal
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
저자
by
Rong Chen
;
Feng-Xia Yang
;
Yan-Fang Tan
;
Mei Deng
;
Hua Li
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
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
저자
by
Hao-Yi Tan
;
Bin Wang
;
Yuan-Zong Song
.
소스
BMC Pediatrics, Vol 22, Iss 1, Pp 1-4 (2022)
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5 . Academic Journal
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
저자
by
Hua Li
;
Rong Chen
;
Gui-Zhi Lin
;
Wei-Xia Lin
;
Muhammad-Rauf Yaqub
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients
저자
by
Rui Liu
;
Jing-Li Tian
;
Xiao-Ling Huang
;
Yuan-Zong Song
.
소스
Journal of Clinical Medicine, Vol 11, Iss 24, p 7313 (2022)
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6 . Academic Journal
Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases
저자
by
Hui Lin
;
Jian-Wu Qiu
;
Yaqub-Muhammad Rauf
;
Gui-Zhi Lin
;
Rui Liu
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 . Academic Journal
Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency
저자
by
Gui-Zhi Lin
;
Jian-Wu Qiu
;
Mei Deng
;
Rong Chen
;
Shun-Ye Zhu
, et al.
소스
The Tohoku Journal of Experimental Medicine. 2019, 248(1):57
Open Access (JSTAGE)
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7 . Academic Journal
Monozygotic Twins Suffering From Sodium Taurocholate Cotransporting Polypeptide Deficiency: A Case Report
저자
by
Hui-Jun Tan
;
Mei Deng
;
Jian-Wu Qiu
;
Jun-Feng Wu
;
Yuan-Zong Song
.
소스
Frontiers in Pediatrics, Vol 6 (2018)
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7 . Academic Journal
Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency
저자
by
Atsuo Kikuchi
;
Feng-Ping Chen
;
Li-Zhen Kuang
;
Shigeo Kure
;
Takeyori Saheki
, et al.
소스
The Tohoku Journal of Experimental Medicine. 2014, 233(4):275
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7 . Academic Journal
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
저자
by
Zhan-Hui Zhang
;
Wei-Xia Lin
;
Mei Deng
;
Shu-Tao Zhao
;
Han-Shi Zeng
, et al.
소스
PLoS ONE, Vol 9, Iss 2, p e89267 (2014)
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