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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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Bibliografske podrobnosti
izdano v:Neurology
Main Authors: Introne, Wendy J., Westbroek, Wendy, Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Malicdan, May Christine V., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5584077/
https://ncbi.nlm.nih.gov/pubmed/28193763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003622
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