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.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
World J Pediatr
; 2023 Dec 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38070096
6.
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(6): 648-52, 2012 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-23225041
7.
[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
8.
[Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(3): 261-5, 2011 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-21644219
9.
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
J Hum Genet
; 55(9): 621-6, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20631720
10.
[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
11.
Living-donor liver transplantation for children with tyrosinemia type I.
J Dig Dis
; 21(3): 189-194, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31953907
12.
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(2): 183-6, 2009 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-19350512
13.
[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
14.
[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
15.
[Role of caspase-3, -8, and -9 in apoptosis of copper induced primary cortical neurons].
Zhongguo Dang Dai Er Ke Za Zhi
; 11(11): 917-22, 2009 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-20113661
16.
[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype].
Zhongguo Dang Dai Er Ke Za Zhi
; 11(5): 328-32, 2009 May.
Artículo
en Zh
| MEDLINE | ID: mdl-19470249
17.
[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
18.
Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.
World J Pediatr
; 15(1): 66-71, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30443829
19.
[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
20.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children].
Zhongguo Dang Dai Er Ke Za Zhi
; 10(1): 31-4, 2008 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-18289467