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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. 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.
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Sampayo-Cordero M, Miguel-Huguet B, Pardo-Mateos A, Malfettone A, Pérez-García J, Llombart-Cussac A, Cortés J, Moltó-Abad M, Muñoz-Delgado C, Pérez-Quintana M, Pérez-López J. Sampayo-Cordero M, et al. Orphanet J Rare Dis. 2019 Oct 21;14(1):230. doi: 10.1186/s13023-019-1202-6. Orphanet J Rare Dis. 2019. PMID: 31639024 Free PMC article.
The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).
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. Int J Environ Res Public Health. 2020 Sep 10;17(18):6590. doi: 10.3390/ijerph17186590. Int J Environ Res Public Health. 2020. PMID: 32927819 Free PMC article.
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. 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.
Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
Pérez-López J, Ceberio-Hualde L, García-Morillo JS, Grau-Junyent JM, Hermida Ameijeiras A, López-Rodríguez M, Milisenda JC, Moltó Abad M, Morales-Conejo M, Nava Mateos JJ. Pérez-López J, et al. Mol Genet Metab Rep. 2017 Feb 3;10:92-95. doi: 10.1016/j.ymgmr.2017.01.011. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28224082 Free PMC article.
Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.
Herrera S, Pérez-López J, Moltó-Abad M, Güerri-Fernández R, Cabezudo E, Novelli S, Esteve J, Hernández A, Roig I, Solanich X, Prieto-Alhambra D, Nogués X, Díez-Pérez A. Herrera S, et al. J Bone Miner Res. 2017 Jul;32(7):1575-1581. doi: 10.1002/jbmr.3121. Epub 2017 May 11. J Bone Miner Res. 2017. PMID: 28263001 Free article. Clinical Trial.
Transition of patients with mucopolysaccharidosis from paediatric to adult care.
Lampe C, McNelly B, Gevorkian AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Stepien KM, Vashakmadze ND, Del Toro M. Lampe C, et al. Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31687335 Free PMC article.
124 results