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...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: 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
বিন্যাস: Journal article
ভাষা:English
প্রকাশিত: Oxford University Press 2016

অনুরূপ উপাদানগুলি

অনুরূপ উপাদানগুলি