首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
sulfite oxidase deficiency相关文献:
Isolated Sulfite Oxidase Deficiency.
Bindu PS, Nagappa M, Bharath RD, Taly AB.
2017 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:28933809
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P.
J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4.
PMID:28980090
Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics.
Hong SY, Lin CH.
Epilepsy Behav. 2023 Jun;143:109246. doi: 10.1016/j.yebeh.2023.109246. Epub 2023 May 13.
PMID:37187015
Isolated sulfite oxidase deficiency: a founder mutation.
Mhanni AA, Greenberg CR, Spriggs EL, Agatep R, Sisk RR, Prasad C.
Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005900. doi: 10.1101/mcs.a005900. Print 2020 Dec.
PMID:33335014
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Schwahn BC, van Spronsen F, Misko A, Pavaine J, Holmes V, Spiegel R, Schwarz G, Wong F, Horman A, Pitt J, Sass JO, Lubout C.
J Inherit Metab Dis. 2024 Jul;47(4):598-623. doi: 10.1002/jimd.12730. Epub 2024 Apr 16.
PMID:38627985
The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models.
Wyse ATS, Grings M, Wajner M, Leipnitz G.
Neurotox Res. 2019 Feb;35(2):484-494. doi: 10.1007/s12640-018-9986-z. Epub 2018 Dec 5.
PMID:30515714
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE.
Pediatrics. 2005 Sep;116(3):757-66. doi: 10.1542/peds.2004-1897.
PMID:16140720
Isolated sulfite oxidase deficiency.
Relinque B, Bardallo L, Granero M, Jiménez PJ, Luna S.
J Neonatal Perinatal Med. 2015 May 18;8(1):53-55. doi: 10.3233/NPM-15814029.
PMID:25758000
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Johnson JL.
Prenat Diagn. 2003 Jan;23(1):6-8. doi: 10.1002/pd.505.
PMID:12533804
Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.
Li JT, Chen ZX, Chen XJ, Jiang YX.
Orphanet J Rare Dis. 2022 Oct 27;17(1):392. doi: 10.1186/s13023-022-02544-x.
PMID:36303223
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3