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.
A clinical, neurolinguistic, and radiological study of a Chinese follow-up case with primary progressive aphasia.
Neurocase
; 19(5): 427-33, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-22827556
3.
[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
4.
[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
5.
[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].
Zhonghua Yi Xue Za Zhi
; 93(20): 1567-70, 2013 May 28.
Artículo
en Zh
| MEDLINE | ID: mdl-24028725
6.
[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
7.
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
8.
[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
9.
[Clinical study of oral alendronate in the treatment of pediatric osteogenesis imperfecta].
Zhonghua Yi Xue Za Zhi
; 92(4): 246-9, 2012 Jan 31.
Artículo
en Zh
| MEDLINE | ID: mdl-22490796
10.
[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
11.
[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
12.
[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
13.
[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
14.
[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
15.
[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
16.
[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
17.
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
18.
[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
19.
[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 24(2): 210-2, 2007 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-17407085
20.
[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