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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Bibliografiske detaljer

Principais autores:	Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E Flanagan
Format:	Artigo
Sprog:	Inglês
Udgivet:	Public Library of Science (PLoS) 2020-01-01
Serier:	PLoS ONE
Online adgang:	https://doi.org/10.1371/journal.pone.0228417
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