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Rare diseases: challenges and opportunities for research and public health.

作者信息

Taruscio Domenica, Gahl William A

机构信息

Study Centre KOS - Science, Art, Society, Rome, Italy.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

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

DOI:10.1038/s41572-024-00505-1

PMID:38424095

Abstract

摘要

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Rare diseases: challenges and opportunities for research and public health.

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

[Rare diseases, a public health issue].

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引用本文的文献

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Front Artif Intell. 2025 Jul 29;7:1496942. doi: 10.3389/frai.2024.1496942. eCollection 2024.

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Acta Biochim Pol. 2025 Jul 14;72:14777. doi: 10.3389/abp.2025.14777. eCollection 2025.

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本文引用的文献

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023.

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Free sialic acid storage disorder: Progress and promise.

Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20.

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Mol Genet Metab Rep. 2019 Oct 16;21:100523. doi: 10.1016/j.ymgmr.2019.100523. eCollection 2019 Dec.

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Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26.

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J Community Genet. 2011 Jun;2(2):81-90. doi: 10.1007/s12687-011-0043-3. Epub 2011 Mar 2.

Cystinosis.

N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.

Suppr超能文献

Rare diseases: challenges and opportunities for research and public health.

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