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Alltrna presents preclinical data demonstration proof of concept for first trna development candidate
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Author(s): Alltrna Press Release on prnewswire
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Link
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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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PKU-SSIS - Adolescent
(English)
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Author(s): Clinical Outcomes Solutions (COS)
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Description: The PKU-SSIS will help researchers understand the patient experience with PKU. To help develop the questionnaire, we would ask adolescents with PKU and their parents/guardians to participate in two online surveys.
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Flyer
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PKU-SSIS - Adult
(English)
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Author(s): Clinical Outcomes Solutions (COS)
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Description: The PKU-SSIS will help researchers assess symptoms and impacts on daily living and understand the patient experience of living with PKU. If you are eligible, we will ask you to participate in two online surveys sent to you two weeks apart.
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Flyer
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Dr Francois Feillet discussing the final results of the KAMPER study reporting on the long-term safety and efficacy of Kuvan (BH4)
(English)
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Author(s): Feillet, Francois, JIMD - Journal of Inherited Metabolic Disease
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Description: Dr Francois Feillet discussing the final results of the KAMPER study reporting on the long-term safety and efficacy of Kuvan (BH4) in patients with phenylalanine hydroxylase deficiency (phenylketonuria). Francois makes an excellent case for the use of this treatment in 'responders', and even some patients who don't respond so well, and explains a little of what might be coming for everyone else.
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Podcast
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Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an Lamino acid-based product
(English)
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Author(s): Abrar Turki,Sylvia Stockler-Ipsiroglu,Sandra Sirrs,Jennifer Branov,Taryn Bosdet,Rajavel Elango
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Description: Phenylketonuria (PKU) is caused by phenylalanine hydroxylase deficiency. Treatment is primarily a low-Phe diet combined with L-amino acid based products (L-AA). Protein requirements in adults with PKU have not been directly determined. A formula with glycomacropeptide (GMP) and low phenylalanine is available, yet untested for optimal protein synthesis.
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Pan Canadian Guidance for NBS
(English)
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Author(s): Canada Drug Agency
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Description: Pan Canadian Guidance for Newborn screening: Building the Foundations for Early Detection and Diagnosis of Conditions
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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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Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
(English)
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Author(s): Khan Sophia M., Heister Robyn R, Keathley Justine R.
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Description: Phenylketonuria (PKU) is an autosomal recessive genetic condition that results in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway, which is involved in the metabolism of phenylalanine (Phe) into tyrosine (Tyr). Without dietary intervention, individuals with PKU exhibit significantly elevated levels of Phe, which is presumed to cause severe neurological dysfunction and other associated health risks. Carriers of PKU are heterozygotes for a PAH gene mutation and are typically described in the literature as “unaffected.” However, decades of existing research challenges this classical thinking and it is plausible that these individuals currently classified as carriers may present with an intermediate phenotype or may be “moderately affected.”
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