EPISODE · Apr 11, 2025 · 27 MIN
Exploring the disease burden in Arginase 1 deficiency
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition. Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre Reena Sharma et al https://doi.org/10.1002/jmd2.12450 Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey Sara Olofsson et al https://doi.org/10.1002/jmd2.12456 Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey Sara Olofsson et al https://doi.org/10.1080/13696998.2024.2400856
What this episode covers
It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition. Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre Reena Sharma et al https://doi.org/10.1002/jmd2.12450 Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey Sara Olofsson et al https://doi.org/10.1002/jmd2.12456 Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey Sara Olofsson et al https://doi.org/10.1080/13696998.2024.2400856
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Exploring the disease burden in Arginase 1 deficiency
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