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1.
[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(6): 649-53, 2013 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-24327139
2.
[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(6): 642-7, 2012 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-23225040
3.
[Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(2): 167-71, 2012 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-22487826
4.
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 13(4): 303-8, 2011 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-21507300
5.
A regulatory polymorphism in promoter region of TNFR1 gene is associated with Kawasaki disease in Chinese individuals.
Hum Immunol
; 72(5): 451-7, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21315128
6.
[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].
Zhonghua Er Ke Za Zhi
; 48(6): 469-72, 2010 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-21055272
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