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
0:15
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…
Max hat ASMD, eine seltene Krankheit. Seit 1,5 Jahren bekommt er als Härtefall eine neue Therapie, die seit 2022 zugelassen ist. Seitdem geht es dem 10-Jährigen besser. Wir haben Max und seine Mutter besucht. | hessenschau
1:39
Max hat ASMD, eine seltene Krankheit. Seit 1,5 Jahren bekommt er als Härtefall eine neue Therapie, die seit 2022 zugelassen ist. Seitdem geht es dem 10-Jährigen besser. Wir haben Max und seine Mutter besucht. | hessenschau
14.4K viewsFeb 28, 2023
Facebookhessenschau
🧬 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,
0:42
🧬 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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FacebookRaras Com Ciência
Meet Taran – a young boy living with a rare, genetic disorder known as acid sphingomyelinase deficiency, or #ASMD. Taran is part of our Rare Humanitarian Program, which lends a helping hand to eligible patients all over the world affected by certain rare diseases. Our program aims to facilitate access to suitable health care for eligible patients who need it. At Sanofi, we remain committed to pursuing better care for rare. Join us in recognizing the pursuit of equity in the care and treatment of
1:13
Meet Taran – a young boy living with a rare, genetic disorder known as acid sphingomyelinase deficiency, or #ASMD. Taran is part of our Rare Humanitarian Program, which lends a helping hand to eligible patients all over the world affected by certain rare diseases. Our program aims to facilitate access to suitable health care for eligible patients who need it. At Sanofi, we remain committed to pursuing better care for rare. Join us in recognizing the pursuit of equity in the care and treatment of
396.5K viewsFeb 29, 2024
FacebookSanofi
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Acid Sphingomyelinase Deficiency (ASMD) is a rare disease that limits and
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