{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:07Z","timestamp":1761102007640},"reference-count":30,"publisher":"Genetics and Molecular Research","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Mol. Res."],"DOI":"10.4238\/2012.august.13.9","type":"journal-article","created":{"date-parts":[[2012,8,15]],"date-time":"2012-08-15T20:17:44Z","timestamp":1345061864000},"page":"2352-2359","source":"Crossref","is-referenced-by-count":8,"title":["High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba"],"prefix":"10.4238","volume":"11","author":[{"given":"C.","family":"Men\u00e9ndez-Sainz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gonz\u00e1lez-Quevedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Gonz\u00e1lez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pe\u00f1a-S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2758","published-online":{"date-parts":[[2012]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"926","DOI":"10.33588\/rn.2809.98314","article-title":"S\u00edndrome de gangliosidosis infantil generalizada GM1. Presentacion de dos casos.","volume":"28","author":"\u00c1lvarez-Valiente","year":"1999","unstructured":"\u00c1lvarez-Valiente H, Cuervo N, Dorado J and Menendez C (1999). S\u00edndrome de gangliosidosis infantil generalizada GM1. Presentacion de dos casos. Rev. Neurol. 28: 926-928.","journal-title":"Rev Neurol","ISSN":"http:\/\/id.crossref.org\/issn\/0210-0010","issn-type":"print"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.1.e10"},{"key":"ref3","first-page":"116","article-title":"Diagn\u00f3stico cl\u00ednico y bioqu\u00edmico de un caso de mucopolisacaridosis tipo I.","volume":"19","author":"Campos-Hern\u00e1ndez","year":"2008","unstructured":"Campos-Hern\u00e1ndez D, Monaga-Castillo M, Herrera-Vallejera D, Pamp\u00edn-Delgado Y, et al. (2008). Diagn\u00f3stico cl\u00ednico y bioqu\u00edmico de un caso de mucopolisacaridosis tipo I. Rev. Biomed. 19: 116-120.","journal-title":"Rev Biomed"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1080\/03014460902817984"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.122394"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0246-7"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9112-8"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711517"},{"key":"ref9","first-page":"258","article-title":"Distribuci\u00f3n geogr\u00e1fica de la fucosidosis en la provincia de Holgu\u00edn Cuba.","volume":"50","author":"Llaurad\u00f3","year":"1994","unstructured":"Llaurad\u00f3 RA, Mar J and Gonz\u00e1lez J (1994). Distribuci\u00f3n geogr\u00e1fica de la fucosidosis en la provincia de Holgu\u00edn Cuba. Rev. Esp. Pediatr. 50: 258-260.","journal-title":"Rev Esp Pediatr","ISSN":"http:\/\/id.crossref.org\/issn\/0034-947X","issn-type":"print"},{"key":"ref10","first-page":"434","article-title":"Diagn\u00f3stico molecular prenatal de fucosidosis. Presentaci\u00f3n de un caso.","volume":"56","author":"Llaurad\u00f3","year":"2000","unstructured":"Llaurad\u00f3 RA, Willems P, Coucke P, Santos N, et al. (2000). Diagn\u00f3stico molecular prenatal de fucosidosis. Presentaci\u00f3n de un caso. Rev. Esp. Pediatr. 56: 434-436.","journal-title":"Rev Esp Pediatr","ISSN":"http:\/\/id.crossref.org\/issn\/0034-947X","issn-type":"print"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-8-213"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"525","DOI":"10.33588\/rn.3706.2003188","article-title":"Mucopolysaccharidosis type I in the Cuban population.","volume":"37","author":"Men\u00e9ndez-Sainz","year":"2003","unstructured":"Men\u00e9ndez-Sainz C, Zaldivar-Munoz C and Gonzalez-Quevedo A (2003). Mucopolysaccharidosis type I in the Cuban population. Rev. Neurol. 37: 525-528.","journal-title":"Rev Neurol","ISSN":"http:\/\/id.crossref.org\/issn\/0210-0010","issn-type":"print"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.4103\/0256-4947.65254"},{"key":"ref15","first-page":"113","article-title":"Matem\u00e1tica y Gen\u00e9tica de Poblaciones.","volume-title":"Emery s Gen\u00e9tica M\u00e9dica","author":"Mueller","year":"2001","unstructured":"Mueller RF and Young ID (2001). Matem\u00e1tica y Gen\u00e9tica de Poblaciones. In: Emery's Gen\u00e9tica M\u00e9dica (Mueller RF and Young ID, eds.). Marb\u00e1n Libros, Madrid, 113-124."},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00041.2009"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201044"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.08.009"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands.","volume":"105","author":"Poorthuis","year":"1999","unstructured":"Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, et al. (1999). The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet. 105: 151-156.","journal-title":"Hum Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9093-7"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2005.091637"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(88)80075-5"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-7-25"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-43"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200272"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Anuario Estad\u00edstico de Salud en Cuba (2005). Available at [http:\/\/www.sld.cu\/servicios\/estadisticas\/]. Accessed November 18, 2008.","DOI":"10.1038\/sj.ejhg.5200272"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Guti\u00e9rrez Garc\u00eda EA, Alonso JLV, Peralta EM, Castilo MM, et al. (2007). Una nueva alternativa diagn\u00f3stica: estudio de las enfermedades lisosomales por m\u00e9todos enzim\u00e1ticos. Rev. Cuba Med. Gen. Integr. 23: 0-0. Available at [http:\/\/scielo.sld.cu\/scielo.php?]. Accessed October 23, 2008.","DOI":"10.1038\/sj.ejhg.5200272"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Maceira MC and Atienza G (2008). Detecci\u00f3n Precoz de Mucopolisacaridosis y Oligosacaridosis en el Per\u00edodo Neonatal Mediante Cribado Poblacional. Revisi\u00f3n Sistem\u00e1tica. Ministerio de Sanidad y Consumo. Avalia-t N\u00ba 2006\/2008, Madrid.","DOI":"10.1038\/sj.ejhg.5200272"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"P\u00e1mpols T, Briones P, Coll MJ, Chab\u00e1s A, et al (1997). Investigaciones Encaminadas a la Prevenci\u00f3n de las Anomal\u00edas Cromos\u00f3micas y las Enfermedades Metab\u00f3licas Hereditarias. Premio Reina Sof\u00eda de Investigaci\u00f3n sobre Prevenci\u00f3n de las Deficiencias. Editora Real Patronato de Prevenci\u00f3n y Atenci\u00f3n a Personas con Minusval\u00eda, Barcelona.","DOI":"10.1038\/sj.ejhg.5200272"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Soto G, Algora AE, Barrios B and Heredero L (1995). Pesquisaje de mucopolisac\u00e1ridos en poblaci\u00f3n infantil de riesgo. Rev. Cub. Ped. 67: 0-0. Available at [http:\/\/scielo.sld.cu\/scielo.php]. Accessed October 23, 2008.","DOI":"10.1038\/sj.ejhg.5200272"}],"container-title":["Genetics and Molecular Research"],"original-title":[],"link":[{"URL":"http:\/\/www.funpecrp.com.br\/gmr\/year2012\/vol11-3\/pdf\/gmr2183.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,2]],"date-time":"2019-07-02T21:58:01Z","timestamp":1562104681000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.funpecrp.com.br\/gmr\/year2012\/vol11-3\/pdf\/gmr2183.pdf"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":30,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.4238\/2012.august.13.9","relation":{},"ISSN":["1676-5680"],"issn-type":[{"value":"1676-5680","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}