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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Čechová A, et al. Among authors: aldamiz echevarria l. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21. J Inherit Metab Dis. 2020. PMID: 32266963 Free PMC article. Review.
Sanfilippo syndrome: Overall review.
Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML. Andrade F, et al. Pediatr Int. 2015 Jun;57(3):331-8. doi: 10.1111/ped.12636. Pediatr Int. 2015. PMID: 25851924 Review.
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P. Quintana E, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4. Epub 2009 Sep 20. J Inherit Metab Dis. 2009. PMID: 19768653
Postauthorization safety study of betaine anhydrous.
Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Mütze U, et al. Among authors: aldamiz echevarria l. J Inherit Metab Dis. 2022 Jul;45(4):719-733. doi: 10.1002/jimd.12499. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35358327 Free article.
New CTSA mutation in early infantile galactosialidosis.
Aldámiz-Echevarría L, Couce ML, Villate O, Fernández-Marmiesse A, Piñán MÁ. Aldámiz-Echevarría L, et al. Pediatr Int. 2018 Aug;60(8):761-762. doi: 10.1111/ped.13604. Epub 2018 Jul 10. Pediatr Int. 2018. PMID: 29987886 No abstract available.
Treatment adherence in tyrosinemia type 1 patients.
González-Lamuño D, Sánchez-Pintos P, Andrade F, Couce ML, Aldámiz-Echevarría L. González-Lamuño D, et al. Among authors: aldamiz echevarria l. Orphanet J Rare Dis. 2021 Jun 3;16(1):256. doi: 10.1186/s13023-021-01879-1. Orphanet J Rare Dis. 2021. PMID: 34082789 Free PMC article.
101 results