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 Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.
Cell Physiol Biochem
; 47(6): 2388-2395, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29991052
3.
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Cell Physiol Biochem
; 49(1): 295-305, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30138938
4.
[Efficacy and safety of a phenylalanine-free amino acid-based enteral formula (AA-PKU2) in 1-8 year-old children with phenylketonuria: a prospective, open, self-controlled and multi-center study in China].
Zhongguo Dang Dai Er Ke Za Zhi
; 16(1): 11-5, 2014 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-24461170
5.
[In vitro expression study of novel mutations in phenylalanine hydroxylase gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(6): 673-7, 2013 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-24327145
6.
[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
7.
[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
8.
[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
9.
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
10.
[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
11.
[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
12.
[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
13.
[Prenatal diagnosis of mucopolysaccharidosis type II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 536-8, 2011 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-21983729
14.
[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
15.
[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
16.
[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
17.
[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
18.
[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
19.
[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
20.
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