Acid Sphingomyelinase Deficiency (ASMD) is a rare disease that limits and shortens the lives of children and adults. Breakthrough treatments can halt symptoms and reverse disease progression. Despite clear clinical benefits, many UK patients still cannot access these medicines, even though they are available in over 50 countries including France, Germany and Australia. Changing the way treatments like these are valued is the first step in giving UK patients with rare diseases a chance of an impr
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Acid Sphingomyelinase Deficiency (ASMD) is a rare disease that limits and shortens the lives of children and adults. Breakthrough treatments can halt symptoms and reverse disease progression. Despite clear clinical benefits, many UK patients still cannot access these medicines, even though they are available in over 50 countries including France, Germany and Australia. Changing the way treatments like these are valued is the first step in giving UK patients with rare diseases a chance of an impr
23.8K views6 months ago
FacebookThe Association of the British Pharmaceutical I…
🧬 Você já ouviu falar sobre a ASMD – Deficiência da Esfingomielinase Ácida? A ASMD é uma doença genética rara e grave, causada por mutações no gene SMPD1, que comprometem a produção da enzima esfingomielinase ácida. Essa enzima é responsável por quebrar a esfingomielina, uma gordura presente em diferentes tecidos do corpo. Quando essa quebra não acontece corretamente, a gordura se acumula em órgãos como fígado, baço, pulmões e até no sistema nervoso, provocando diversos sintomas respiratórios,
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🧬 Você já ouviu falar sobre a ASMD – Deficiência da Esfingomielinase Ácida? A ASMD é uma doença genética rara e grave, causada por mutações no gene SMPD1, que comprometem a produção da enzima esfingomielinase ácida. Essa enzima é responsável por quebrar a esfingomielina, uma gordura presente em diferentes tecidos do corpo. Quando essa quebra não acontece corretamente, a gordura se acumula em órgãos como fígado, baço, pulmões e até no sistema nervoso, provocando diversos sintomas respiratórios,
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