Cosmic Fate
It's funny, I have to laugh every time someone asks me if I am pursuing a degree in Genetics because of my own genetic disease. Actually no. I knew I…
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Cosmic Fate
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Scientists Discovered the First Effective Alkaptonuria Treatment
In the past, there existed no approved treatments for alkaptonuria (AKU), a rare genetic disorder characterized by homogentisate dioxygenase deficiency. However, according to Medical XPress, this recently changed as British…
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Scientists Discovered the First Effective Alkaptonuria Treatment
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EMA Gives Positive Opinion on Nitisinone as a Treatment for Alkaptonuria
According to a story from the AKU Society, the European Medicines Agency (EMA) has recently announced a positive opinion on extending the label indication for nitisinone (marketed as Orfadin®). The…
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EMA Gives Positive Opinion on Nitisinone as a Treatment for Alkaptonuria
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Machine Learning is Improving Treatment for Alkaptonuria
According to a story from mdmag.com, a recent proof-of-concept style study suggests that a certain machine learning tool could be of benefit to patients living with the rare condition alkaptonuria.…
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Machine Learning is Improving Treatment for Alkaptonuria
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A Rare Intervention For His Children’s Alkaptonuria
A Rare Intervention For His Children’s Rare Disease An inspiring article has recently been published in the journal Nature that credits Nick Sireau, a resident of the UK, with…
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A Rare Intervention For His Children’s Alkaptonuria
Alkaptonuria Research Points to New Nitisinone Treatment
According to a Science Daily report, new research by a group in Liverpool recently uncovered a drug for the treatment of alkaptonuria. Researchers published the collaborative study in the journal…
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Alkaptonuria Research Points to New Nitisinone Treatment
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How Brexit Could Delay Treatment Access to UK Patients with Alkaptonuria
According to a story from the Independent, father Nick Sireau is worried that Brexit, the United Kingdom's plan to withdraw from the European Union, could affect the ability of his…
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How Brexit Could Delay Treatment Access to UK Patients with Alkaptonuria
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Alkaptonuria – A Guide to Diagnosis
Alkaptonuria, a rare genetic metabolic disorder resulting from excess homogentisic acid in the body, affects all kinds of people, though symptoms tend to become more severe in males. Symptoms include:…
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Alkaptonuria – A Guide to Diagnosis
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Exploring AKU Globally: One Woman’s Travels Through Diagnosis and Support
According to the AKU Society, Flavia was only a few weeks old when her parents noticed that her urine had stained her diaper an unnatural brown color. Flavia and her…
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Exploring AKU Globally: One Woman’s Travels Through Diagnosis and Support
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Runner with Knee Injury Finishes Marathon to Awareness for Alkaptonuria
You've got to be dedicated to train for a marathon. When Brit Joe England signed on to raise pounds for the Alkaptonuria (AKU) Society, he was optimistic about finishing the…
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Runner with Knee Injury Finishes Marathon to Awareness for Alkaptonuria
