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Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.
Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J, Coll MJ. Pineda M, et al. Among authors: pocovi m. Mol Genet Metab. 2010 Apr;99(4):358-66. doi: 10.1016/j.ymgme.2009.11.007. Epub 2009 Nov 29. Mol Genet Metab. 2010. PMID: 20056559
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P. Andrade-Campos M, et al. Among authors: pocovi m. Orphanet J Rare Dis. 2017 May 3;12(1):84. doi: 10.1186/s13023-017-0627-z. Orphanet J Rare Dis. 2017. PMID: 28468677 Free PMC article.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: pocovi m. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.
Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project.
Giraldo P, Andrade-Campos M, Alfonso P, Irun P, Atutxa K, Acedo A, Barez A, Blanes M, Diaz-Morant V, Fernández-Galán MA, Franco R, Gil-Cortes C, Giner V, Ibañez A, Latre P, Loyola I, Luño E, Hernández-Martin R, Medrano-Engay B, Puerta J, Roig I, de la Serna J, Salamero O, Villalón L, Pocovi M. Giraldo P, et al. Among authors: pocovi m. Blood Cells Mol Dis. 2018 Feb;68:173-179. doi: 10.1016/j.bcmd.2016.10.017. Epub 2016 Oct 24. Blood Cells Mol Dis. 2018. PMID: 27836529 Free article.
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I, Irún P, Cebolla JJ, Rodriguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Dominguez C, Pocoví M; Spanish NP-C Group. De Castro-Orós I, et al. Among authors: pocovi m. J Transl Med. 2017 Feb 21;15(1):43. doi: 10.1186/s12967-017-1146-3. J Transl Med. 2017. PMID: 28222799 Free PMC article.
168 results