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Clinical features of fructose-1,6-bisphosphatase deficiency in 4 children and literature review

Objective To summarize the clinical features and genetic variation characteristics of children with fructose-1,6-bisphosphatase deficiency (FBP1D) caused by FBP1 gene variations. Methods Four pediatric patients with FBP1D admitted from January 2019 to June 2025 were enrolled as study subjects. Their...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолч: HUANG Shuyue, CHENG Ming, WANG Xi′ou, SONG Yi, DU Mu, SONG Fuying, CAO Bingyan
Формат: Artigo
Хэл сонгох:Chinês
Хэвлэсэн: Editorial Office of Journal of Clinical Pediatrics 2026-05-01
Цуврал:Linchuang erke zazhi
Нөхцлүүд:
Онлайн хандалт:https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1778223611591-1422129414.pdf
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