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sulfite oxidase deficiency相关文献:
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
Isolated Sulfite Oxidase Deficiency.
Bindu PS, Nagappa M, Bharath RD, Taly AB.
2017 Sep 21. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:28933809
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
Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.
Fu CY, Kohl JB, Liebsch F, D'Andrea D, Ditrói T, Ogata S, Neuser F, Mai M, Mellis AT, Kouroussis E, Morita M, Gehling T, Santamaria-Araujo JA, Yeo SY, Endepols H, Křížková M, Kozich V, Krueger M, Hennermann JB, Barayeu U, Akaike T, Nagy P, Filipovic M, Schwarz G.
J Clin Invest. 2025 Nov 3;135(21):e181299. doi: 10.1172/JCI181299. eCollection 2025 Nov 3.
PMID:41178722
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].
Matsuishi T, Wada N, Isakai T, Togo A.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):189-91.
PMID:9645040
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
Karakas E, Kisker C.
Dalton Trans. 2005 Nov 7;(21):3459-63. doi: 10.1039/b505789m. Epub 2005 Sep 26.
PMID:16234925
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