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Precision Health Database


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Rare Diseases

Last data update: Oct 02, 2023. (Total: 61664 Documents since 2012)
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Records 1 - 6 (of 6 Records)

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Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Hewat Thomas I et al. Pediatric diabetes 2022
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
Banerjee Indraneel et al. Wellcome open research 2019 4149
Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.
Hashemian Somayyeh et al. International journal of endocrinology 2020 20207250406
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld Elizabeth et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 181(4) 682-692
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.
Yau Daphne et al. PloS one 2020 15(2) e0228417
Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.
Houghton Jayne A L et al. Methods in molecular biology (Clifton, N.J.) 2020 2076129-177
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