The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained o...

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Detalles Bibliográficos
Autores principales: Szymańska, Krystyna, Szczałuba, Krzysztof, Ługowska, Agnieszka, Obersztyn, Ewa, Radkowski, Marek, Nowakowska, Beata A., Kuśmierska, Katarzyna, Tryfon, Jolanta, Demkow, Urszula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4052700/
https://www.ncbi.nlm.nih.gov/pubmed/24949445
http://dx.doi.org/10.1155/2014/424796

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