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1.
[Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 27(6): 626-30, 2010 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-21154320
2.
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children
The Malaysian Journal of Pathology
; : 53-57, 2010.
Artículo
en Inglés
| WPRIM | ID: wpr-630290
3.
Citrin deficiency is an important etiology for cholestatic liver disease in children / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 624-627, 2009.
Artículo
en Zh
| WPRIM | ID: wpr-360317
4.
Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 328-332, 2009.
Artículo
en Zh
| WPRIM | ID: wpr-347923
5.
Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 411-415, 2008.
Artículo
en Zh
| WPRIM | ID: wpr-326123
6.
Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency / 实用儿科临床杂志
Journal of Applied Clinical Pediatrics
; (24): 1553-1557, 2008.
Artículo
en Zh
| WPRIM | ID: wpr-635163
7.
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 408-412, 2007.
Artículo
en Zh
| WPRIM | ID: wpr-356139
8.
Progresses and perspectives in the study on citrin deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 655-658, 2006.
Artículo
en Zh
| WPRIM | ID: wpr-285058
9.
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 125-128, 2006.
Artículo
en Zh
| WPRIM | ID: wpr-262767
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