Neurologic involvement in patients with atypical Chediak-Higashi disease

OBJECTIVE: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. METHODS: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluati...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Introne, Wendy J., Westbroek, Wendy, Cullinane, Andrew R., Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4826336/
https://ncbi.nlm.nih.gov/pubmed/26944273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002551
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