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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: christodoulou 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.
First prenatal diagnosis of the carnitine transporter defect.
Christodoulou J, Teo SH, Hammond J, Sim KG, Hsu BY, Stanley CA, Watson B, Lau KC, Wilcken B. Christodoulou J, et al. Am J Med Genet. 1996 Dec 2;66(1):21-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8957505
Progressive myoclonic epilepsies: recent genetic advances.
Ellaway CJ, Elliott EJ, Christodoulou J. Ellaway CJ, et al. Among authors: christodoulou j. J Paediatr Child Health. 1997 Apr;33(2):91-5. doi: 10.1111/j.1440-1754.1997.tb01006.x. J Paediatr Child Health. 1997. PMID: 9145347 Review.
Rett syndrome: randomized controlled trial of L-carnitine.
Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Ellaway C, et al. Among authors: christodoulou j. J Child Neurol. 1999 Mar;14(3):162-7. doi: 10.1177/088307389901400306. J Child Neurol. 1999. PMID: 10190267 Clinical Trial.
Prolonged QT interval in Rett syndrome.
Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Ellaway CJ, et al. Among authors: christodoulou j. Arch Dis Child. 1999 May;80(5):470-2. doi: 10.1136/adc.80.5.470. Arch Dis Child. 1999. PMID: 10208957 Free PMC article.
568 results