Detalhe da pesquisa
1.
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
J Med Genet
; 61(1): 8-17, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316190
2.
[Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(1): 59-62, 2021 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33423260
3.
Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 494-499, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704418
4.
[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(12): 1356-1359, 2020 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33306821
5.
A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.
Eur J Med Genet
; 64(5): 104192, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33766795
6.
Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.
Front Genet
; 12: 816779, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35308163
7.
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Orphanet J Rare Dis
; 16(1): 22, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33413471
8.
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Mol Genet Genomic Med
; 9(11): e1822, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668645