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...
| Hlavní autoři: | , , , , , , , , , , , , , , , , , , |
|---|---|
| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
Oxford University Press
2016
|