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Abstract

Neurometabolic disorders comprise a diverse group of inherited metabolic diseases with a wide age of onset and phenotypic spectrum. Progressive neurological manifestations are the prominent signs and symptoms in this group of diseases. Early diagnosis is critical, mainly for the treatable group of neurometabolic disorders, to allow timely initiation of treatment and prevention of irreversible brain damage. Conventionally, despite extensive, expensive, and often invasive studies, diagnostic delays are common and many patients with neurometabolic disorders remain undiagnosed. However, with the introduction of next-generation sequencing (NGS) technology, our ability to diagnose patients are dramatically improved as well as helping with the development of more targeted therapeutic strategies and disease management. In this presentation, we will discuss neurometabolic disorders, approaches to this group of diseases in the genomic era, and highlight the main clinical manifestations, with emphasis on early detection, and early treatment.

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/content/papers/10.5339/qproc.2020.NMD.19
2020-09-15
2020-09-20
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http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.19
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