Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
Abstract Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most c...
| Auteurs principaux: | , |
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| Format: | Article |
| Langue: | English |
| Publié: |
BMC
2021-11-01
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| Collection: | Orphanet Journal of Rare Diseases |
| Sujets: | |
| Accès en ligne: | https://doi.org/10.1186/s13023-021-02088-6 |