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由于新的HADH-GHSR二代基因突变,严重的先天性高胰岛素症随着神经系统的逐渐恶化:第一个病例报告

Azzeddine Laaraje1, Abdelilah Radi1, Aomar Agadr1

  • 1Department of Pediatrics, Mohammed V Training Military Hospital, Mohammed V University, Rabat, Morocco.

Pediatric endocrinology, diabetes, and metabolism
|February 16, 2026
PubMed
概括

这项研究详细介绍了一例罕见的严重先天性高胰岛素症 (CHI) 病例,该病例发生在患有新型HADH和GHSR基因突变的婴儿身上. 这些基因突变导致了严重的神经问题和难以管理的低血糖症.

关键词:
发生GHSR突变的GHSR.在HADH中发生突变.伦诺克斯-加斯托综合征是什么?韦斯特综合征是什么意思基因遗传是一种基因遗传.性脑病 - - 性脑病遗传性高胰岛素症是一种先天性高胰岛素症.

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