Detalhe da pesquisa
1.
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
Mol Genet Metab
; 141(1): 108098, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38061323
2.
Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.
Clin Lab
; 70(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623669
3.
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
4.
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
5.
Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency. / å ä¾è碱æ£æ¦é °åºè½¬ç§»é ¶2缺ä¹çæ£å¿ä¸´åºç¹å¾ååºå åå¼åæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 53(2): 207-212, 2024 Apr 25.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38650450
6.
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Clin Genet
; 103(6): 655-662, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945845
7.
Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools.
Clin Genet
; 103(2): 190-199, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309956
8.
[Consensus on laboratory diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(7): 769-780, 2023 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37368376
9.
[Long-term outcome of hematopoietic stem cell transplantation in two children with Mucopolysaccharidosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1489-1495, 2023 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37994129
10.
[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
11.
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Hum Mutat
; 43(5): 557-567, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143115
12.
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
J Inherit Metab Dis
; 45(3): 593-604, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212421
13.
Resource utilization of medical waste under COVID-19: Waste mask used as crude oil fluidity improver.
J Clean Prod
; 358: 131903, 2022 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35530255
14.
[The progress, challenges and opportunities of neonatal genome screening].
Zhonghua Yu Fang Yi Xue Za Zhi
; 56(9): 1190-1195, 2022 Sep 06.
Artigo
em Zh
| MEDLINE | ID: mdl-36207879
15.
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hum Mutat
; 42(5): 614-625, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675270
16.
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Am J Hum Genet
; 103(3): 448-455, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122539
17.
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
J Hum Genet
; 66(4): 409-417, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040084
18.
Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy.
Metab Brain Dis
; 36(8): 2405-2414, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524592
19.
Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 436-443, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704411
20.
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/ß-catenin signaling.
Hum Mutat
; 41(5): 1012-1024, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981384