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1.
Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report.
World J Clin Cases
; 10(25): 8932-8938, 2022 Sep 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36157644
2.
A Polyhydroxyalkanoates-Based Carrier Platform of Bioactive Substances for Therapeutic Applications.
Front Bioeng Biotechnol
; 9: 798724, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35071207
3.
Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.
Transl Pediatr
; 10(6): 1658-1667, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34295780
4.
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.
Mol Med Rep
; 14(6): 5189-5194, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27779681
5.
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 Res Int
; 2016: 4124263, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27127784
6.
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Sci Rep
; 6: 29732, 2016 07 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27405544
7.
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
PLoS One
; 9(2): e89267, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24586645
8.
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.
Int J Mol Med
; 34(5): 1241-8, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25216257
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