Detalhe da pesquisa
1.
Gene variants and clinical characteristics of children with sitosterolemia.
Lipids Health Dis;
23(1): 83, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38509578
2.
Using sno-lncRNAs as potential markers for Prader-Willi syndrome diagnosis.
RNA Biol;
20(1): 419-430, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37405372
3.
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.
Orphanet J Rare Dis;
19(1): 179, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38685110
4.
Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome.
Orphanet J Rare Dis;
18(1): 25, 2023 02 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36750945
5.
Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis).
Front Pediatr;
10: 852701, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35463894
6.
WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.
Acta Paediatr;
100(7): e39-42, 2011 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21314844
7.
[A 10-year review of childhood type 1 diabetes mellitus and the clinical value of interleukin-10 in diabetic ketoacidosis].
Zhongguo Dang Dai Er Ke Za Zhi;
12(11): 849-54, 2010 Nov.
Artigo
em Zh
| MEDLINE
| ID: mdl-21083976
8.
Gitelman syndrome combined with growth hormone deficiency: Three cases report.
Medicine (Baltimore);
98(40): e17244, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31577716
9.
A novel HNF4A mutation identified in a child with maturity onset diabetes of the young.
World J Pediatr;
18(11): 778-780, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35118593