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新種のHADH-GHSR二遺伝子変異による進行性神経学的悪化を伴う重度の先天性高インスリン症:最初の症例報告

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
まとめ

この研究では,HADHおよびGHSR遺伝子変異の新生児における重症の先天性高インスリン症 (CHI) のまれな症例について詳細に述べています. ダイジェニック変異は,深刻な神経学的問題と管理が難しい低血糖症を引き起こした.

キーワード:
GHSR変異によるGHSR変異HADHの突然変異が起こっています.レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (Lennox-Gastaut syndrome) とは,レノックス-ガストー症候群 (LGSA) とは,レノックス-ガストー症候群 (LGSA) とはウェスト症候群は,ウェスト症候群である.digenic 遺伝子の継承についてepileptic encephalopathy エピレプティック・エンセファロパシー エピレプティック・エンセファロパシー生まれながらのハイパーインスリン症.

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