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Canada’s national pharmacare plan – boon or bane?
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Author(s): Rawson, Nigel; Adams, John
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Description: National pharmacare, as proposed by the federal government, will not improve patient access to innovative medicines without major changes to current gatekeeping practices. Without deeper reforms, it could make drug access worse for patients.
Canadians used to be proud of their “national medicare,” but health care across the country is now in crisis (Angus Reid Institute 2023). There’s a significant shortage of doctors, nurses, and hospital beds, several million Canadians have no family physician (Duong and Vogel 2023), emergency rooms are overrun with people who have nowhere else to turn for medical treatment (Kirkey 2024; Zafar 2024), and wait times to see a specialist (assuming an appropriate one is accessible in your area) and for surgery are far too long (Moir and Barua 2023) such that patients can die before seeing a health care provider.
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The situation of Palynziq in Quebec: On air with "Lagacé le matin"
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Author(s): Landry, Marika; PCU Blog, Lagacé le matin
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Link - French
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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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Dr Francois Feillet discussing the final results of the KAMPER study reporting on the long-term safety and efficacy of Kuvan (BH4)
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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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Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease
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Author(s): Shao Ching Tu, Marium Khan, Katie Wolfe, Sakil S Kulkarni, Elizabeth Toolan, Dorothy K Grange
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Description: Abstract
Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by the accumulation of branched-chain amino acids (leucine, isoleucine, and valine) caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex. Liver transplant is an effective therapy for MSUD, and patients can usually tolerate a regular diet after transplant without symptomatic metabolic decompensation. Most post-transplant patients do not follow a sick-day diet. We report a case of a 7-year-old male with MSUD Type IA, status post-liver transplant at 2 years of age, who presented with profound encephalopathy following poor oral intake and vomiting for 3 days. Broad laboratory workup was significant for hyperleucinosis and an unrevealing infectious workup. We conducted a review of eight post-liver transplant MSUD patients followed at Washington University in St. Louis. The review revealed that plasma amino acids were generally not checked during intercurrent illnesses in this patient cohort. While most of our patients have not had documented encephalopathy, one of the patients with epilepsy had a seizure during a gastrointestinal illness. Based on the review of the literature and from our center's experience, acute metabolic decompensation with intercurrent illnesses in MSUD patients after liver transplant appears to be rare. This case report raises awareness that patients with MSUD are still at risk of developing metabolic crisis post-liver transplant and provides additional insight into the risk factors associated with metabolic decompensation in this patient cohort.
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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
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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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Liste de produits nutritionnels thérapeutiques couverts par le programme alimentaire québécois pour le traitement de maladies métaboliques
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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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A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
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Author(s): Donnelly Colleen ,Estrella Lissette , Ginevic Ilona, Ganesh Jaya
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Description: DNAJC12-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the DNAJC12 gene. The loss of the DNAJC12-encoded chaperone results in the destabilization of the biopterin-dependent aromatic amino acid hydroxylases, resulting in deficiencies in dopamine, norepinephrine, and serotonin. We present the case of a patient who screened positive for hyperphenylalaninemia on newborn screening and was discovered to be homozygous for a likely pathogenic variant of DNAJC12. Here, we review the management of DNAJC12-related hyperphenylalaninemia and compare our patient to other reported cases in the literature to investigate how early detection and management may impact clinical outcomes.
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Understanding the Burden of Classical Homocystinuria (HCU) From the Patient’s Perspective: A Qualitative Study
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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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Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy
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Author(s): Bittmann, Stefan ~ Villalon, Gloria ~Moschuring-Alieva, Elena~ Luchtera, Elisabeth ~ Bittmann,Lara
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PDF - Scientific Paper
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