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2021 3
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Page 1
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C. Sue CM, et al. Among authors: russell j. Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19. Intern Med J. 2022. PMID: 34505344 Free PMC article.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Among authors: russell j. Genet Med. 2021 Sep;23(9):1705-1714. doi: 10.1038/s41436-021-01194-x. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140661 Free article.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L, Selvanathan A, Batten KJ, van Doorn N, Thompson S, Mitchell A, Sampaio H, Dalkeith T, Russell J, Ellaway CJ, Farrar M, Broderick C, Bhattacharya K. Adams L, et al. Among authors: russell j. JIMD Rep. 2023 Aug 9;64(5):327-336. doi: 10.1002/jmd2.12389. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701325 Free PMC article.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Among authors: russell j. Genet Med. 2021 Sep;23(9):1789. doi: 10.1038/s41436-021-01280-0. Genet Med. 2021. PMID: 34302123 Free article. No abstract available.