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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 1
2006 3
2007 3
2008 4
2009 3
2010 3
2011 5
2012 3
2013 5
2014 6
2015 15
2016 7
2017 6
2018 5
2019 7
2020 10
2021 3
2022 1
2024 1

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80 results

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Page 1
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.
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.
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: aldamiz echevarria l. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093
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.
Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco.
Fdil N, Sabir ES, Ezoubeiri A, Elqadiry R, Daoudi A, Lalaoui A, Fouad A, Rada N, Slitine N, Bennaoui F, Bourrahouat A, Saab IA, Boualy B, Karim A, Andrade F, González-Lamuňo D, Aldámiz-Echevarria L, Bouskraoui M. Fdil N, et al. Among authors: aldamiz echevarria l. Clin Lab. 2020 Mar 1;66(3). doi: 10.7754/Clin.Lab.2019.190720. Clin Lab. 2020. PMID: 32162878
New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L, Cebolla JJ, Aldámiz-Echevarría L, de la Vega Á, Stanescu S, Lahoz C, Irún P, Giraldo P. López de Frutos L, et al. Among authors: aldamiz echevarria l. Mol Biol Rep. 2020 Mar;47(3):2085-2095. doi: 10.1007/s11033-020-05308-7. Epub 2020 Feb 14. Mol Biol Rep. 2020. PMID: 32060698
80 results