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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges, benefits and pitfalls a...
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Publicado en: | Orphanet J Rare Dis |
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Main Authors: | , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado: |
BioMed Central
2019
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Assuntos: | |
Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6341610/ https://ncbi.nlm.nih.gov/pubmed/30665446 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0985-1 |
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