Detalles de la búsqueda
1.
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Acta Pharmacol Sin
; 40(2): 279-287, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29872134
2.
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(5): 574-8, 2013 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-24078573
3.
[Diagnosis and treatment of isolated methylmalonic acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(5): 589-93, 2013 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-24078577
4.
[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia].
Zhonghua Yi Xue Za Zhi
; 93(8): 561-5, 2013 Feb 26.
Artículo
en Zh
| MEDLINE | ID: mdl-23663331
5.
[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
Zhonghua Yi Xue Za Zhi
; 92(40): 2839-42, 2012 Oct 30.
Artículo
en Zh
| MEDLINE | ID: mdl-23290213
6.
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 27(2): 180-5, 2010 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-20376801
7.
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(5): 504-10, 2009 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-19806568
8.
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
Zhonghua Yu Fang Yi Xue Za Zhi
; 43(2): 128-31, 2009 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-19534905
9.
[A study on the active efflux system in methicillin-resistant Staphylococcus aureus].
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue
; 21(12): 722-5, 2009 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-20042137
10.
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 11(8): 609-12, 2009 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-19695181
11.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].
Zhonghua Yi Xue Za Zhi
; 88(30): 2122-6, 2008 Aug 05.
Artículo
en Zh
| MEDLINE | ID: mdl-19080473
12.
Factors associated with unplanned extubation in the Intensive Care Unit for adult patients: A systematic review and meta-analysis.
Intensive Crit Care Nurs
; 47: 62-68, 2018 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-29653888
13.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(6): 692-5, 2007 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-18067086
14.
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
World J Pediatr
; 11(4): 366-73, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26454440
15.
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Zhonghua Er Ke Za Zhi
; 51(3): 194-8, 2013 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-23751581
16.
[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].
Zhonghua Er Ke Za Zhi
; 50(6): 405-9, 2012 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-22931933
17.
[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].
Zhonghua Er Ke Za Zhi
; 50(2): 126-30, 2012 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-22455637
18.
[Enzymatic diagnosis of 47 cases with mucopolysaccharidosis].
Zhonghua Er Ke Za Zhi
; 47(4): 276-80, 2009 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-19555566
19.
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Zhonghua Er Ke Za Zhi
; 47(3): 189-93, 2009 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-19573432
20.
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
Zhonghua Er Ke Za Zhi
; 46(4): 281-5, 2008 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-19099731