Detalhe da pesquisa
1.
[Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(9): 1107-1112, 2023 Sep 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37643956
2.
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 155-160, 2023 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36709932
3.
Treatment and management for children with urea cycle disorder in chronic stage. / å°¿ç´ å¾ªç¯éç¢æ£å¿æ ¢æ§ææ²»çå管ç.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 744-750, 2023 Oct 03.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-37807629
4.
ATAD3A gene variations in a family with Harel-Yoon syndrome. / Harel-Yoon综åå¾ä¸å®¶ç³»ä¸´åºè¡¨ååATAD3Aåºå åå¼åæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 738-743, 2023 Dec 07.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38105692
5.
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. / æµæ±ç1200ä¸ä¾æ°çå¿å 天æ§ç²ç¶è ºåè½åéçãé«è¯ä¸æ°¨é ¸è¡ççæ¥ç»æåæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 683-692, 2023 Dec 16.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38105685
6.
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening. / æ°çå¿çæ¥åç°çæ°¨ç²é °ç£·é ¸åæé ¶1缺ä¹çæ£å¿é¿æé访ç 究.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 721-726, 2023 Nov 14.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-37986659
7.
Mechanism of One-Step Hydrothermally Synthesized Titanate Catalysts for Ozonation.
Molecules
; 27(9)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35566056
8.
[Current understanding and progress of research on isovaleric acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 99-102, 2022 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34964978
9.
[Expert consensus for the diagnosis and treatment of glutaricacidemia type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(1): 1-6, 2021 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33423247
10.
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 414-418, 2021 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-33974246
11.
A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(6): 795-798, 2021 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347920
12.
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 454-462, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704421
13.
Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 487-493, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704417
14.
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
J Inherit Metab Dis
; 43(3): 467-477, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845334
15.
[Identification of a de novo missense variant of ARID1B gene in a child with mental retardation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(10): 1154-1157, 2020 Oct 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32924124
16.
[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 574-580, 2020 Oct 25.
Artigo
em Zh
| MEDLINE | ID: mdl-33210482
17.
[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 556-564, 2020 Oct 25.
Artigo
em Zh
| MEDLINE | ID: mdl-33210480
18.
[Effects of delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 565-573, 2020 Oct 25.
Artigo
em Zh
| MEDLINE | ID: mdl-33210481
19.
Comparison of Ca2+ Handling for the Regulation of Vasoconstriction between Rat Coronary and Renal Arteries.
J Vasc Res
; 56(4): 191-203, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390638
20.
Multiple catalytic roles of chloroperoxidase in the transformation of phenol: Products and pathways.
Ecotoxicol Environ Saf
; 179: 96-103, 2019 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026755