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. 2024 Feb 29;10(1):13.
doi: 10.1038/s41572-024-00505-1.

Rare diseases: challenges and opportunities for research and public health

Domenica Taruscio  1 , William A Gahl  2
Affiliations

Rare diseases: challenges and opportunities for research and public health

Domenica Taruscio et al. Nat Rev Dis Primers. .
No abstract available

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References

    1. Wakap, S. N. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020). - DOI
    1. Dye, D. E., Brameld, K. J., Maxwell, S., Goldblatt, J. & O’Leary, P. The impact of single gene and chromosomal disorders on hospital admissions in an adult population. J. Community Genet. 2, 81–90 (2011). - DOI - PubMed - PMC
    1. Rose, A. M. et al. The financial and time burden associated with phenylketonuria treatment in the United States. Mol. Genet. Metab. Rep. 21, 100523 (2019). - DOI - PubMed - PMC
    1. Gahl, W. A. et al. The NIH Undiagnosed Diseases Program: insights into rare diseases. Genet. Med. 14, 51–59 (2012). - DOI - PubMed
    1. Ramoni, R. B. et al. The Undiagnosed Diseases Network: accelerating discovery about health and disease. Am. J. Hum. Genet. 100, 185–192 (2017). - DOI - PubMed - PMC

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