Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey

Abstract Arginase 1 deficiency (ARG1‐D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1‐D by performing a cross‐sectional survey of patients with ARG1‐D...

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Main Authors: Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:JIMD Reports
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Online Access:https://doi.org/10.1002/jmd2.12456
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