Cumulative incidence rates of the mucopolysaccharidoses in Germany
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-005-0112-z
Reference24 articles.
1. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105: e10.
2. Breslow N, Day N (1987) The design and analysis of cohort studies. In: Statistical Methods in Cancer Research, vol. II. Lyon: IARC Publications.
3. Bunge S, Kleijer WJ, Steglich C, et al (1994) Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 3: 861–866.
4. Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A (1995) Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Hum Mutat 6: 91–94.
5. Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R (1997) Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr 156: 650–654.
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