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Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.
Ward LM, Högler W, Glorieux FH, Portale AA, Whyte MP, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Sochett E, Muroya K, Tanaka H, Pitukcheewanont P, Gottesman GS, Biggin A, Perwad F, Chen A, Lawrence Merritt Ii J, Imel EA. Ward LM, et al. Among authors: lawrence merritt ii j. JBMR Plus. 2024 Jan 4;8(1):ziad001. doi: 10.1093/jbmrpl/ziad001. eCollection 2024 Jan. JBMR Plus. 2024. PMID: 38690124 Free PMC article. Clinical Trial.
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: lawrence merritt ii j. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.