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Articles published on arginase 1 deficiency (ARG1-D)

A new study from IHE has recently been published in two articles that provides additional insights into the ultra-rare disease arginase 1 deficiency (ARG1-D). This is a metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability.

In a European survey study of 21 individuals with ARG1-D, it was shown that this disease may cause severe cognitive and mobility impairment which has an impact on quality of life, societal costs, and caregiver burden. The study was a collaboration between IHE, Immedica Pharma AB and ARG1-D clinical expertise at hospitals in Europe.


Read more and download the articles:

Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey  

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