Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiati...

書誌詳細
主要な著者:	Reid, E, Papandreou, A, Drury, S, Boustred, C, Yue, W, Wedatilake, Y, Beesley, C, Jacques, T, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, S, Lench, N, Rahman, S, Gissen, P, Clayton, P, Mills, P
フォーマット:	Journal article
言語:	English
出版事項:	Oxford University Press 2016

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