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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: julve n. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
Prevalence of dermographism in children.
Martorell A, Sanz J, Ortiz M, Julve N, Cerdá JC, Ferriols E, Alvarez V. Martorell A, et al. Among authors: julve n. J Investig Allergol Clin Immunol. 2000 May-Jun;10(3):166-9. J Investig Allergol Clin Immunol. 2000. PMID: 10923592
Atypical involvement of the palms and soles in a varicella infection.
Nagore E, Sánchez-Motilla JM, Julve N, Lecuona C, Oliver V. Nagore E, et al. Among authors: julve n. Acta Derm Venereol. 1999 Jul;79(4):322. doi: 10.1080/000155599750010760. Acta Derm Venereol. 1999. PMID: 10429994 Free article. No abstract available.