Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-018-0921-4.pdf
Reference81 articles.
1. Bezman L, Moser HW. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet. 1998;76:415–9.
2. Heim P, Claussen M, Hoffmann B, Conzelmann E, Gartner J, Harzer K, et al. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71:475–8.
3. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001;49:512–7.
4. Kemp S, Berger J, Aubourg P. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta Mol basis Dis. 2012;1822:1465–74.
5. Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 2012;7:51.
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