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Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Parrado A, Rubio G, Serrano M, De la Morena-Barrio ME, Ibáñez-Micó S, Ruiz-Lafuente N, Schwartz-Albiez R, Esteve-Solé A, Alsina L, Corral J, Hernández-Caselles T. Parrado A, et al. Among authors: alsina l. Glycobiology. 2022 Mar 19;32(2):84-100. doi: 10.1093/glycob/cwab087. Glycobiology. 2022. PMID: 34420056
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A. Casas-Alba D, et al. Among authors: alsina l. Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30176098 Review.
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
García-García A, Buendia Arellano M, Deyà-Martínez À, Lozano Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Yiyi L, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP, Alsina L. García-García A, et al. Among authors: alsina l. Pediatr Allergy Immunol. 2021 Apr;32(3):566-575. doi: 10.1111/pai.13398. Epub 2020 Nov 6. Pediatr Allergy Immunol. 2021. PMID: 33098103
Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults.
Girona-Alarcon M, Argüello G, Esteve-Sole A, Bobillo-Perez S, Burgos-Artizzu XP, Bonet-Carne E, Mensa-Vilaró A, Codina A, Hernández-Garcia M, Jou C, Alsina L, Jordan I. Girona-Alarcon M, et al. Among authors: alsina l. iScience. 2022 Jan 21;25(1):103595. doi: 10.1016/j.isci.2021.103595. Epub 2021 Dec 9. iScience. 2022. PMID: 34904133 Free PMC article.
Clues to management of neonatally diagnosed BTK deficiency.
Deyà-Martínez A, Esteve-Sole A, Giner MT, Aróstegui JI, Ruiz-Ortiz E, Yagüe J, Juan M, Plaza AM, Alsina L. Deyà-Martínez A, et al. Among authors: alsina l. Pediatr Allergy Immunol. 2016 Jun;27(4):428-30. doi: 10.1111/pai.12549. Epub 2016 Mar 16. Pediatr Allergy Immunol. 2016. PMID: 26844683 No abstract available.
129 results