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2012
C. Menéndez-Sainz, González-Quevedo, A., González-García, S., Peña-Sánchez, M., and Giugliani, R., High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba, vol. 11, pp. 2352-2359, 2012.
Álvarez-Valiente H, Cuervo N, Dorado J and Menendez C (1999). Síndrome de gangliosidosis infantil generalizada GM1. Presentacion de dos casos. Rev. Neurol. 28: 926-928. PMid:10390761   Anuario Estadístico de Salud en Cuba (2005). Available at [http://www.sld.cu/servicios/estadisticas/]. Accessed November 18, 2008.   Applegarth DA, Toone JR and Lowry RB (2000). Incidence of inborn errors of metabolism in British Columbia, 1969- 1996. Pediatrics 105: e10. http://dx.doi.org/10.1542/peds.105.1.e10 PMid:10617747   Campos-Hernández D, Monaga-Castillo M, Herrera-Vallejera D, Pampín-Delgado Y, et al. (2008). Diagnóstico clínico y bioquímico de un caso de mucopolisacaridosis tipo I. Rev. Biomed. 19: 116-120.   Cintado A, Companioni O, Nazabal M, Camacho H, et al. (2009). Admixture estimates for the population of Havana City. Ann. Hum. Biol. 36: 350-360. http://dx.doi.org/10.1080/03014460902817984 PMid:19381988   Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, et al. (2002). Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J. Pediatr. 140: 321-327. http://dx.doi.org/10.1067/mpd.2002.122394 PMid:11953730   Fletcher JM (2006). Screening for lysosomal storage disorders - a clinical perspective. J. Inherit. Metab. Dis. 29: 405-408. http://dx.doi.org/10.1007/s10545-006-0246-7 PMid:16763909   Giugliani R (2010). Inborn errors of metabolism in Latin America: challenges and opportunities. J. Inherit. Metab. Dis. 33: S315-S320. http://dx.doi.org/10.1007/s10545-010-9112-8 PMid:20454860   Gutiérrez García EA, Alonso JLV, Peralta EM, Castilo MM, et al. (2007). Una nueva alternativa diagnóstica: estudio de las enfermedades lisosomales por métodos enzimáticos. Rev. Cuba Med. Gen. Integr. 23: 0-0. Available at [http://scielo.sld.cu/scielo.php?]. Accessed October 23, 2008.   Krasnopolskaya KD, Mirenburg TV, Aronovich EL, Lebedeva TV, et al. (1993). Diagnosis and prevention of lysosomal storage diseases in Russia. J. Inherit. Metab. Dis. 16: 994-1002. http://dx.doi.org/10.1007/BF00711517 PMid:8127076   Llauradó RA, Mar J and González J (1994). Distribución geográfica de la fucosidosis en la provincia de Holguín Cuba. Rev. Esp. Pediatr. 50: 258-260.   Llauradó RA, Willems P, Coucke P, Santos N, et al. (2000). Diagnóstico molecular prenatal de fucosidosis. Presentación de un caso. Rev. Esp. Pediatr. 56: 434-436.   Maceira MC and Atienza G (2008). Detección Precoz de Mucopolisacaridosis y Oligosacaridosis en el Período Neonatal Mediante Cribado Poblacional. Revisión Sistemática. Ministerio de Sanidad y Consumo. Avalia-t Nº 2006/2008, Madrid.   Meikle PJ, Hopwood JJ, Clague AE and Carey WF (1999). Prevalence of lysosomal storage disorders. JAMA 281: 249-254. http://dx.doi.org/10.1001/jama.281.3.249 PMid:9918480   Mendizabal I, Sandoval K, Berniell-Lee G, Calafell F, et al. (2008). Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba. BMC Evol. Biol. 8: 213. http://dx.doi.org/10.1186/1471-2148-8-213 PMid:18644108 PMCid:2492877   Menéndez-Sainz C, Zaldivar-Munoz C and Gonzalez-Quevedo A (2003). Mucopolysaccharidosis type I in the Cuban population. Rev. Neurol. 37: 525-528. PMid:14533069   Moammar H, Cheriyan G, Mathew R and Al-Sannaa N (2010). Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008. Ann. Saudi Med. 30: 271-277. http://dx.doi.org/10.4103/0256-4947.65254 PMid:20622343 PMCid:2931777   Mueller RF and Young ID (2001). Matemática y Genética de Poblaciones. In: Emery's Genética Médica (Mueller RF and Young ID, eds.). Marbán Libros, Madrid, 113-124. PMCid:2150783   Parkinson-Lawrence EJ, Shandala T, Prodoehl M, Plew R, et al. (2010). Lysosomal storage disease: revealing lysosomal function and physiology. Physiology 25: 102-115. http://dx.doi.org/10.1152/physiol.00041.2009 PMid:20430954   Pámpols T, Briones P, Coll MJ, Chabás A, et al (1997). Investigaciones Encaminadas a la Prevención de las Anomalías Cromosómicas y las Enfermedades Metabólicas Hereditarias. Premio Reina Sofía de Investigación sobre Prevención de las Deficiencias. Editora Real Patronato de Prevención y Atención a Personas con Minusvalía, Barcelona.   Pinto R, Caseiro C, Lemos M, Lopes L, et al. (2004). Prevalence of lysosomal storage diseases in Portugal. Eur. J. Hum. Genet. 12: 87-92. http://dx.doi.org/10.1038/sj.ejhg.5201044 PMid:14685153   Platt FM and Lachmann RH (2009). Treating lysosomal storage disorders: current practice and future prospects. Biochim. Biophys. Acta 1793: 737-745. http://dx.doi.org/10.1016/j.bbamcr.2008.08.009 PMid:18824038   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. PMid:10480370   Poupetová H, Ledvinova J, Berna L, Dvorakova L, et al. (2010). The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J. Inherit. Metab. Dis. 33: 387-396. http://dx.doi.org/10.1007/s10545-010-9093-7 PMid:20490927 PMCid:2903693   Sanderson S, Green A, Preece MA and Burton H (2006). The incidence of inherited metabolic disorders in the West Midlands, UK. Arch. Dis. Child. 91: 896-899. http://dx.doi.org/10.1136/adc.2005.091637 PMid:16690699 PMCid:2082934   Santavuori P (1988). Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 10: 80-83. http://dx.doi.org/10.1016/S0387-7604(88)80075-5   Soto G, Algora AE, Barrios B and Heredero L (1995). Pesquisaje de mucopolisacáridos en población infantil de riesgo. Rev. Cub. Ped. 67: 0-0. Available at [http://scielo.sld.cu/scielo.php]. Accessed October 23, 2008.   Stromme P, Kanavin OJ, Abdelnoor M, Woldseth B, et al. (2007). Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study. BMC Pediatr. 7: 25. http://dx.doi.org/10.1186/1471-2431-7-25 PMid:17597517 PMCid:1914055   Teruel BM, Rodriguez JJ, McKeigue P, Mesa TT, et al. (2011). Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study. BMC Med. Genet. 12: 43. http://dx.doi.org/10.1186/1471-2350-12-43 PMid:21435264 PMCid:3079615   Willems PJ, Seo HC, Coucke P, Tonlorenzi R, et al. (1999). Spectrum of mutations in fucosidosis. Eur. J. Hum. Genet. 7: 60-67. http://dx.doi.org/10.1038/sj.ejhg.5200272 PMid:10094192