Lifetime risk estimators in epidemiological studies of Krabbe Disease

References

• Hers HG. Inborn lysosomal diseases. Gastroenterology 1965; 48:625 - 33; PMID: 14280390
   PubMed Web of Science ®Google Scholar
• Neufeld EF, Lim TW, Shapiro LJ. Inherited disorders of lysosomal metabolism. Annu Rev Biochem 1975; 44:357 - 76; http://dx.doi.org/10.1146/annurev.bi.44.070175.002041; PMID: 806251
   PubMed Web of Science ®Google Scholar
• Luzi P, Rafi MA, Wenger DA. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 1995; 26:407 - 9; http://dx.doi.org/10.1016/0888-7543(95)80230-J; PMID: 7601472
   PubMed Web of Science ®Google Scholar
• Wenger DA. Krabbe Disease (Globoid Cell Leukodystrophy). In: Raymond GV, Eichler F, Fatemi A, Naidu S, eds. Leukodystrophies. London: Mac Keith Press; 2011.
   Google Scholar
• Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 2009; b 40:245 - 52, discussion 253-5; http://dx.doi.org/10.1016/j.pediatrneurol.2008.11.010; PMID: 19302934
   PubMed Web of Science ®Google Scholar
• Duffner PK, Jalal K, Carter RL. The Hunter’s Hope Krabbe family database. Pediatr Neurol 2009; a 40:13 - 8; http://dx.doi.org/10.1016/j.pediatrneurol.2008.08.011; PMID: 19068248
   PubMed Web of Science ®Google Scholar
• Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 2010; 33:387 - 96; http://dx.doi.org/10.1007/s10545-010-9093-7; PMID: 20490927
   PubMed Web of Science ®Google Scholar
• Kolodny EH, Raghavan S, Krivit W. Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev Neurosci 1991; 13:232 - 9; http://dx.doi.org/10.1159/000112166; PMID: 1817026
   PubMed Web of Science ®Google Scholar
• Jalal K, Carter R, Yan L, Barczykowski A, Duffner PK. Does galactocerebrosidase activity predict Krabbe phenotype?. Pediatr Neurol 2012; 47:324 - 9; http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.003; PMID: 23044012
   PubMed Web of Science ®Google Scholar
• Adams RD, Lyon G. Practical laboratory tests for the diagnosis of hereditary metabolic encephalopathies. Neurology of Hereditary Metabolic Diseases of Children. Washington: McGraw-Hill; 1982.
   Google Scholar
• Ozand PT, Gascon G, al Aqeel A, Roberts G, Dhalla M, Subramanyam SB. Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherit Metab Dis 1990; 13:849 - 61; http://dx.doi.org/10.1007/BF01800209; PMID: 2079833
   PubMed Web of Science ®Google Scholar
• Lyon G, Hagberg B, Evrard P, Allaire C, Pavone L, Vanier M. Symptomatology of late onset Krabbe’s leukodystrophy: the European experience. Dev Neurosci 1991; 13:240 - 4; http://dx.doi.org/10.1159/000112167; PMID: 1817027
   PubMed Web of Science ®Google Scholar
• Arvidsson J, Hagberg B, Månsson JE, Svennerholm L. Late onset globoid cell leukodystrophy (Krabbe’s disease)--Swedish case with 15 years of follow-up. Acta Paediatr 1995; 84:218 - 21; http://dx.doi.org/10.1111/j.1651-2227.1995.tb13616.x; PMID: 7756815
   PubMed Web of Science ®Google Scholar
• Michelakakis H, Dimitriou E, Tsagaraki S, Giouroukos S, Schulpis K, Bartsocas CS. Lysosomal storage diseases in Greece. Genet Couns 1995; 6:43 - 7; PMID: 7794561
   PubMedGoogle Scholar
• Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr 1997; 156:650 - 4; http://dx.doi.org/10.1007/s004310050685; PMID: 9266201
   PubMed Web of Science ®Google Scholar
• Hagberg B, Kollberg H, Sourander P, Akesson HO. Infantile globoid cell leucodystrophy (Krabbe's disease). A clinical and genetic study of 32 Swedish cases 1953–1967. Neuropaediatrie 1969; 1:74 - 88; http://dx.doi.org/10.1055/s-0028-1091865
   PubMedGoogle Scholar
• Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, et al. Leukodystrophy incidence in Germany. Am J Med Genet 1997; 71:475 - 8; http://dx.doi.org/10.1002/(SICI)1096-8628(19970905)71:4<475::AID-AJMG20>3.0.CO;2-C; PMID: 9286459
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281:249 - 54; http://dx.doi.org/10.1001/jama.281.3.249; PMID: 9918480
   PubMed Web of Science ®Google Scholar
• Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12:87 - 92; http://dx.doi.org/10.1038/sj.ejhg.5201044; PMID: 14685153
   PubMed Web of Science ®Google Scholar
• Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105:151 - 6; PMID: 10480370
   PubMed Web of Science ®Google Scholar
• Ozkara HA, Topçu M. Sphingolipidoses in Turkey. Brain Dev 2004; 26:363 - 6; http://dx.doi.org/10.1016/j.braindev.2003.09.006; PMID: 15275696
   PubMed Web of Science ®Google Scholar
• Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000; 105:e10; http://dx.doi.org/10.1542/peds.105.1.e10; PMID: 10617747
   PubMed Web of Science ®Google Scholar
• Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002; 140:321 - 7; http://dx.doi.org/10.1067/mpd.2002.122394; PMID: 11953730
   PubMed Web of Science ®Google Scholar
• Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology 2010; 75:718 - 25; http://dx.doi.org/10.1212/WNL.0b013e3181eee46b; PMID: 20660364
   PubMed Web of Science ®Google Scholar
• Zlotogora J, Regev R, Zeigler M, Iancu TC, Bach G. Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet 1985; 21:765 - 70; http://dx.doi.org/10.1002/ajmg.1320210420; PMID: 4025402
   PubMed Web of Science ®Google Scholar
• Zlotogora J, Levy-Lahad E, Legum C, Iancu TC, Zeigler M, Bach G. Krabbe disease in Israel. Isr J Med Sci 1991; 27:196 - 8; PMID: 2010272
   PubMedGoogle Scholar
• Macarov M, Zlotogora J, Meiner V, Khatib Z, Sury V, Mengistu G, et al. Genetic screening for Krabbe disease: learning from the past and looking to the future. Am J Med Genet A 2011; 155A:574 - 6; http://dx.doi.org/10.1002/ajmg.a.33815; PMID: 21344630
   PubMed Web of Science ®Google Scholar
• Suzuki K, Suzuki Y. Galactosylceramide Lipidosis: Globoid Cell Leukodystrophy (Krabbe's Disease). In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The Metabolic Basis of Inherited Disease, 5th edition. New York: McGraw-Hill; 1983.
   Google Scholar
• Suzuki K, Suzuki Y, Suzuki K. Galactosylceramide lipidosis: globoid-cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic and molecular bases of inherited disease, 7th edition. New York: McGraw-Hill; 1995.
   Google Scholar
• Wenger DA, Suzuki K, Suzuki Y, Suzuki K. Galactosylceramide lipidosis: globoid-cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill; 2001.
   Google Scholar
• Pastores GM, Kolodny EH. Lysosomal storage diseases. In: Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: Principles and Practice, 4th edition, Vol 1. Philadelphia: Elsevier; 2006.
   Google Scholar
• Beiser A, D’Agostino RB Sr., Seshadri S, Sullivan LM, Wolf PA. Computing estimates of incidence, including lifetime risk: Alzheimer’s disease in the Framingham Study. The Practical Incidence Estimators (PIE) macro. Stat Med 2000; 19:1495 - 522; http://dx.doi.org/10.1002/(SICI)1097-0258(20000615/30)19:11/12<1495::AID-SIM441>3.0.CO;2-E; PMID: 10844714
   PubMed Web of Science ®Google Scholar
• Rothman KJ. Modern Epidemiology. Boston: Little, Brown and Company; 1986.
   Google Scholar
• MacMahon B, Trichopoulos D. Epidemiology: Principles and Methods, 2nd edition. Boston: Little, Brown and Company; 1996.
   Google Scholar
• Rothman KJ. Epidemiology: An Introduction. Oxford: University Press; 2002.
   Google Scholar
• Koepsell TD, Weiss NS. Epidemiologic methods: Studying the outcome of illness. Oxford: University Press; 2003.
   Google Scholar
• Seshadri S, Wolf PA. Lifetime risk of stroke and dementia: current concepts, and estimates from the Framingham Study. Lancet Neurol 2007; 6:1106 - 14; http://dx.doi.org/10.1016/S1474-4422(07)70291-0; PMID: 18031707
   PubMed Web of Science ®Google Scholar
• Barczykowski AL, Foss AH, Duffner PK, Yan L, Carter RL. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. Am J Med Genet A 2012; 158A:2835 - 42; http://dx.doi.org/10.1002/ajmg.a.35624; PMID: 22991292
   PubMed Web of Science ®Google Scholar
• Metropolis N, Ulam S. The Monte Carlo method. J Am Stat Assoc 1949; 44:335 - 41; http://dx.doi.org/10.1080/01621459.1949.10483310; PMID: 18139350
   PubMed Web of Science ®Google Scholar
• de Vladar HP, Barton NH. The contribution of statistical physics to evolutionary biology. Trends Ecol Evol 2011; 26:424 - 32; http://dx.doi.org/10.1016/j.tree.2011.04.002; PMID: 21571390
   PubMed Web of Science ®Google Scholar
• Pawlicki T, Ma CM. Monte Carlo simulation for MLC-based intensity-modulated radiotherapy. Med Dosim 2001; 26:157 - 68; http://dx.doi.org/10.1016/S0958-3947(01)00061-9; PMID: 11444518
   PubMedGoogle Scholar
• Broadie M, Glasserman P. Estimating security price derivatives using simulation. Manage Sci 1996; 42:269 - 86; http://dx.doi.org/10.1287/mnsc.42.2.269
   Web of Science ®Google Scholar
• R Development Core Team. R: A language and environment for statistical computing. Vienna: R Foundation for Statistical Computing; 2011.
   Google Scholar
• Martin JA, Hamilton BE, Ventura SJ, Osterman MJ, Kirmeyer S, Mathews TJ, et al. Deaths: final data for 2009. Natl Vital Stat Rep 2011; 60:1 - 116; PMID: 22670489
   PubMedGoogle Scholar
• Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet 1992; 42:536 - 8; http://dx.doi.org/10.1002/ajmg.1320420422; PMID: 1609834
   PubMed Web of Science ®Google Scholar
• Houston J, Aschlimann M, Barrett M, Robison C. Births and Deaths in 2009. Utah Office of Vital Records and Statistics. Technical Report No. 271. 2011.
   Google Scholar