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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: haldar k. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
Association of the GNAS locus with severe malaria.
Auburn S, Diakite M, Fry AE, Ghansah A, Campino S, Richardson A, Jallow M, Sisay-Joof F, Pinder M, Griffiths MJ, Peshu N, Williams TN, Marsh K, Molyneux ME, Taylor TE, Koram KA, Oduro AR, Rogers WO, Rockett KA, Haldar K, Kwiatkowski DP. Auburn S, et al. Among authors: haldar k. Hum Genet. 2008 Dec;124(5):499-506. doi: 10.1007/s00439-008-0575-8. Epub 2008 Oct 26. Hum Genet. 2008. PMID: 18951142 Free PMC article.
Assessment of Plasmodium falciparum Artemisinin Resistance Independent of kelch13 Polymorphisms and with Escalating Malaria in Bangladesh.
Nima MK, Mukherjee A, Sazed SA, Hossainey MRH, Phru CS, Johora FT, Safeukui I, Saha A, Khan AA, Marma ASP, Ware RE, Mohandas N, Calhoun B, Haque R, Khan WA, Alam MS, Haldar K. Nima MK, et al. Among authors: haldar k. mBio. 2022 Feb 22;13(1):e0344421. doi: 10.1128/mbio.03444-21. Epub 2022 Jan 25. mBio. 2022. PMID: 35073756 Free PMC article.
236 results