| Předmět: |
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| Zdroj: |
Genomics & Genetics Weekly; 6/14/2024, p217-217, 1p |
| Abstrakt: |
A recent study conducted at the Children's Hospital of Philadelphia focused on hyperinsulinism in children with Kabuki syndrome (KS). The study aimed to characterize the clinical and molecular features of hyperinsulinism in this population. The researchers found that hypoglycemia was often recognized at birth in children with KS and hyperinsulinism, but the diagnosis of hyperinsulinism was often delayed. Most children responded well to treatment with diazoxide. The study also highlighted the importance of evaluating children with KS for hyperinsulinism and including specific genetic evaluations in the diagnostic process. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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