푸고스축적증 · 희귀질환 · 메디나우 · medinow

푸고스축적증 (Fucosidosis)의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities.

출처: Orphanet / INSERM · 2026-06-23 · CC BY 4.0 · 영어 원문, HTML 서식 제거 · 영어 원문