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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
2006 1
2007 1
2008 1
2010 1
2011 2
2012 1
2013 1
2014 2
2015 3
2016 2
2017 4
2018 1
2019 2
2020 3
2021 1
2024 0

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25 results

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Page 1
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: perez lopez j. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
[Giant-cell arteritis].
Solans-Laqué R, Pérez-López J, Bosch-Gil JA. Solans-Laqué R, et al. Among authors: perez lopez j. Med Clin (Barc). 2006 Apr 29;126(16):624-7. doi: 10.1157/13087721. Med Clin (Barc). 2006. PMID: 16759555 Spanish. No abstract available.
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.
Sampayo-Cordero M, Miguel-Huguet B, Pardo-Mateos A, Moltó-Abad M, Muñoz-Delgado C, Pérez-López J. Sampayo-Cordero M, et al. Among authors: perez lopez j. Mol Genet Metab. 2018 Feb;123(2):69-75. doi: 10.1016/j.ymgme.2018.01.002. Epub 2018 Jan 5. Mol Genet Metab. 2018. PMID: 29336994 Review.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A. Mehta A, et al. Among authors: perez lopez j. Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Intern Med J. 2019. PMID: 30414226 Free PMC article. Review.
The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: "The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis".
Sampayo-Cordero M, Miguel-Huguet B, Malfettone A, Pérez-García JM, Llombart-Cussac A, Cortés J, Pardo A, Pérez-López J. Sampayo-Cordero M, et al. Among authors: perez lopez j. Front Mol Biosci. 2021 Jun 22;8:690615. doi: 10.3389/fmolb.2021.690615. eCollection 2021. Front Mol Biosci. 2021. PMID: 34239895 Free PMC article. Review.
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).
Stepien KM, Gevorkyan AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Tol G, Del Toro Riera M, Vashakmadze ND, Lampe C. Stepien KM, et al. Among authors: perez lopez j. Orphanet J Rare Dis. 2020 May 14;15(1):114. doi: 10.1186/s13023-020-01382-z. Orphanet J Rare Dis. 2020. PMID: 32410642 Free PMC article.
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].
Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol J, Couce ML, García-Silva MT, González Gutiérrez-Solana L, Del Toro M; Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP). Pérez-López J, et al. Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Med Clin (Barc). 2016. PMID: 27816186 Spanish.
25 results