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  2. Phenylketonuria - Wikipedia

    en.wikipedia.org/wiki/Phenylketonuria

    Before the causes of PKU were understood, PKU caused severe disability in most people who inherited the relevant mutations. Nobel and Pulitzer Prize winning author Pearl S. Buck had a daughter named Carol who lived with PKU before treatment was available, and wrote an account of its effects in a book called The Child Who Never Grew. [ 61 ]

  3. European Society for Phenylketonuria and Allied Disorders ...

    en.wikipedia.org/wiki/European_Society_for...

    The E.S.PKU benchmark report [5] assesses the differences in care across Europe and provides a starting point for the E.S.PKU to improve any gaps in care that have been identified. [6] In consequence, the delegates decided that action is required to improve this situation. The report was presented [7] at the European Parliament. To underline ...

  4. Hyperphenylalaninemia - Wikipedia

    en.wikipedia.org/wiki/Hyperphenylalaninemia

    Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...

  5. Eton Pharmaceuticals Announces Final Readout of PKU GOLIKE ...

    lite.aol.com/tech/story/0022/20241217/9320186.htm

    If left unmanaged, PKU can lead to devastating consequences, such as brain damage. People living with PKU do not have the ability to metabolize Phe, which is found in many foods, and they require supplementation of amino acid-based phenylalanine-free medical formulas as part of an effort to prevent protein deficiency and optimize metabolic control.

  6. The Birmingham child who paved the way for the heel prick test

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  7. This Rare-Disease Biotech Scores an Important Win - AOL

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  8. 15 Famous, Inspiring People in History Who Had Schizophrenia

    www.aol.com/15-famous-inspiring-people-history...

    15 Famous, Inspiring People in History Who Had Schizophrenia. Shelby Deering. May 31, 2024 at 10:59 AM. NETHERLANDS - JANUARY 01: Vincent Van Gogh. Self-portrait. Oil on canvas (1889). 65 x 54,5 ...

  9. List of people diagnosed with Parkinson's disease - Wikipedia

    en.wikipedia.org/wiki/List_of_people_diagnosed...

    Famous people have been diagnosed with Parkinson's disease. Living. Neil Diamond at Hollywood Walk of Fame induction, August 2012 Davis Phinney started a ...