Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

Congenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are important as they inform health care planning and can aid interpretation of gen...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Yau, Daphne, Laver, Thomas W., Dastamani, Antonia, Senniappan, Senthil, Houghton, Jayne A. L., Shaikh, Guftar, Cheetham, Tim, Mushtaq, Talat, Kapoor, Ritika R., Randell, Tabitha, Ellard, Sian, Shah, Pratik, Banerjee, Indraneel, Flanagan, Sarah E.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7004321/
https://ncbi.nlm.nih.gov/pubmed/32027664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0228417
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