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Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Pajares S, et al. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. Mol Genet Metab. 2012. PMID: 22521955
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
Genetic Diagnosis of Rare Diseases: Past and Present.
Ramos-Fuentes F, González-Meneses A, Ars E, Hernández-Jaras J. Ramos-Fuentes F, et al. Among authors: gonzalez meneses a. Adv Ther. 2020 May;37(Suppl 2):29-37. doi: 10.1007/s12325-019-01176-1. Epub 2020 Mar 31. Adv Ther. 2020. PMID: 32236876 Review.
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P, Santotoribio JD, Delarosa-Rodríguez R, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC. Hernández-Arévalo P, et al. Among authors: gonzalez meneses a. Orphanet J Rare Dis. 2021 May 21;16(1):233. doi: 10.1186/s13023-021-01864-8. Orphanet J Rare Dis. 2021. PMID: 34020684 Free PMC article.
42 results