Dr. Marc Patterson a pediatric neurologist at Mayo Clinic discusses Niemann-Pick disease type C.
Niemann-Pick Disease Type C
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touchNEUROLOGY caught up with Tahseen Mozaffar (University California, Irvine, CA, USA) to discuss the results from the PROPEL study (NCT03729362) investigating the use of AT-GAA for the treatment of late-onset Pompe disease. Questions: Could you tell us a little about late onset Pompe disease and the unmet needs in its treatment? (0:15) What is AT-GAA […]
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Antonio Federico (EAN Scientific Committee Chair; Professor, Clinical Neurology and Neurometabolic Diseases, University of Siena, Italy) describes the impact increased migration has had on the pathophysiology of neurological conditions and the need to increase awareness of this amongst neurologists. Questions 1. ...
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Antonio Federico (EAN Scientific Committee Chair; Professor, Clinical Neurology and Neurometabolic Diseases, University of Siena, Italy) discusses the unique challenges that rare neurological diseases bring and how the EAN have a Task Force focused on this important area. Questions 1. Could ...
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Günther Deuschl (EAN President; Professor of Neurology, Department of Neurology, University Hospital Schleswig-Holstein, Kiel Campus, Germany) kindly took the time to discuss with us the burden of neurological diseases in Europe, including disparities across our continent, and how the ...
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Günther Deuschl (EAN President; Professor of Neurology, Department of Neurology, University Hospital Schleswig-Holstein, Kiel Campus, Germany) kindly took the time to discuss with us the burden of neurological diseases in Europe, including disparities across our continent, and how the ...
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Thapanee Somboon (Cleveland Clinic, OH) talks us through the key findings of her two presentations, which focused on the prevalence of high risk obstructive sleep apnea and insomnia in neurological populations (abstract available here) and the performance of sleep apnea ...
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In this exclusive interview during WORLDSymposium 2015, Nicholas Clayton, MSc, staff scientist at Genzyme Corporation discusses the exciting new data he and his colleagues presented on antisense therapy that is in development to treat patients with Pompe disease.
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Priya Kishnani, MD, professor of Pediatrics at Duke University School of Medicine and practicing geneticist at Duke Children's Hospital discusses our current understanding of the pathophysiology and management of Pompe disease.
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Beth Thurberg, MD, PhD, vice president of Pathology at Genzyme Corporation discusses the results of clinical trial looking at clearance of sphingomyelin with recombinant human acid sphingomyelinase administration in patients with Niemann-Pick Type B disease. ...
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Looking at clearance of sphingomyelin with recombinant human acid sphingomyelinase administration in patients with Niemann-Pick Type B disease. ...
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In this exclusive interview during WORLDSymposium 2015, Nicholas Clayton, MSc, staff scientist at Genzyme Corporation discusses the exciting new data he and his colleagues presented on antisense therapy that is in development to treat patients with Pompe disease. ...
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Anti-NMDA Receptor Encephalitis- the clinical criteria of early diagnosis.
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For patients with Niemann-Pick type C (NPC) disease, the test will make it possible to begin treatment earlier, when it is more likely to improve quality of life. The fatal genetic disorder frequently takes years to diagnose, and earlier detection ...
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