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PKU Testing - Letter to Families
(English)
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Author(s): BC Children's Hospital
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Why should I get genetic testing?
(English)
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Author(s): NORD, NPKUA
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PDF
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Your Nutritional Monitoring for metabolic diseases - Tyrophed
(English)
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Author(s): https://tyrophed.com/#
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Description: This application is an initiative of Mrs. Lydia St-Gelais, mother of little Édouard suffering from tyrosinemia. The application was named in honor of little Édouard (ED) and aims to help parents of children or patients with metabolic diseases like Édouard. This application is specially designed to track tyrosinemia, phenylketonuria, maple syrup urine disease and urea cycle disease. This tool will facilitate the daily monitoring of nutritional intake and leave you more time for what really matters!
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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
(English)
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Author(s): Muntau, Ani; Longo, Nicola; Ezgu, Fatih, Schwartz, Ida Vanessa D; Lah, Melissa; Bratkovic, Drago, Smith, Neil; MacDonald, Anita; Kiykim, Ertugrul; Zori, Roberto; Campistol Plana, Jaume; Bélanger-Quintana, Amaya; Lund, Allan; Guilder, Laura;
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Description: https://pubmed.ncbi.nlm.nih.gov/39368841/
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Link
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Patient PKU Pediatric Registry in Canada
(English)
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Author(s): CanPKU+
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Oral Health and Rare Disorders
(English)
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Author(s): CanPKU+; Chute, Tanya
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PKU Registry
(English)
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Author(s): Inform Rare; CanPKU+
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Le Registre Canadien de la PCU
(English)
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Author(s): Inform Rare; CanPKU+
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Liste de produits nutritionnels thérapeutiques couverts par le programme alimentaire québécois pour le traitement de maladies métaboliques
(English)
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Author(s): héréditaires - Juin 2024
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Description: Liste de produits nutritionnels thérapeutiques couverts par le programme alimentaire québécois pour le traitement de maladies métaboliques
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Link
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Understanding the Burden of Classical Homocystinuria (HCU) From the Patient’s Perspective: A Qualitative Study
(English)
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Author(s): Bartke,Danaé; Pokrzywinski, Robin; Clucas, Claudine; Machuzak,Kathy; Pinto, Lionel; Travere
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Description: Qualitative interviews with adult patients, pediatric patients, and caregivers elicited in-depth descriptions of how patients with HCU are affected and burdened by various aspects of their disease experience
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