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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:PLoS One
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2020
Θέματα:
Research Article
Διαθέσιμο Online: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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