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Homocystinuria
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25.01.2022 A Sister's Quest for a Cure. We continue to be inspired by the work of Margie McGlynn, President of HCU Network America. We are fortunate to have Margie within our rare disease community. Read the full article here http://www.buffalo.edu//st/2021/02/pharm-mcglynn-gift.html
25.01.2022 Maes Metabólicas are hosting an upcoming webinar with Dr Tomas Majtan on Enzyme Therapy. Check it out below.
21.01.2022 HCU Lophlex Powders are now available in Australia. HCU Lophlex are foods for special medical purposes for the dietary management of homocystinuria (HCU) in children aged 3 years onwards and adults. Talk to your metabolic team for more information.
17.01.2022 Homocystinuria - HCU Network America is hosting a Low Protein Community Chat on February 27th. Details below.
11.01.2022 Rare Disease Day takes place on the last day of February each year. A Day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Check out the Rare Disease Day 2021 official video. 18 days to go!
03.01.2022 We are delighted to share that a paper from our survey of the homocystinuria community has recently been published in Orphanet Journal of Rare Diseases. This paper describes the often long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this paper also highlights problems with the availability and cost of treatment and the palatability of protein substitutes.
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