Living with adrenoleukodystrophy: adult patient and caregiver perspectives

Abstract Introduction Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions. We report on an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting involving patients and caregivers, Food and...

詳細記述

書誌詳細

主要な著者:	Amena Smith Fine, Kathleen O’ Sullivan-Fortin, Kelly Miettunen, Felicity Emerson, Reza Sadjadi, Ali Fatemi, Florian Eichler
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2026-01-01
シリーズ:	Orphanet Journal of Rare Diseases
主題:	Adrenoleukodystrophy Adrenomyeloneuropathy Disease burden Patient voice Quality of life Symptoms
オンライン･アクセス:	https://doi.org/10.1186/s13023-025-04130-3
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!