Detalhe da pesquisa
1.
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
J Med Genet
; 61(1): 27-35, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586839
2.
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Metab Brain Dis
; 38(6): 2013-2023, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014526
3.
[Analysis of disease spectrum for abnormal 3-hydroxyisovalerylcarnitine metabolism identified through newborn screening and clinical diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1466-1471, 2023 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37994125
4.
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Orphanet J Rare Dis
; 19(1): 75, 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365697
5.
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Clin Chim Acta
; 548: 117483, 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421976
6.
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
Orphanet J Rare Dis
; 18(1): 48, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890565
7.
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.
J Mol Diagn
; 25(5): 284-294, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849017
8.
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Orphanet J Rare Dis
; 18(1): 126, 2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237297
9.
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
J Clin Lipidol
; 17(6): 808-817, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37858495
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070096
11.
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
Front Genet
; 13: 1062715, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36568374
12.
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
Front Genet
; 13: 805599, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242167
13.
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
14.
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
15.
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Mol Genet Genomic Med
; 8(3): e1143, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31975548
16.
Liubao Insect tea polyphenols prevent HCl/ethanol induced gastric damage through its antioxidant ability in mice.
RSC Adv
; 10(9): 4984-4995, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35498330
17.
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Orphanet J Rare Dis
; 15(1): 340, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33272297
18.
Lactobacillus fermentum HFY06 reduced CCl4-induced hepatic damage in Kunming mice.
RSC Adv
; 10(1): 1-9, 2019 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35492553
19.
(+)-Usnic Acid Inhibits Migration of c-KIT Positive Cells in Human Colorectal Cancer.
Evid Based Complement Alternat Med
; 2018: 5149436, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298093
20.
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
World J Pediatr
; 10(3): 219-26, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25124972