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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Vydáno v:Neurology
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2016
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On-line přístup: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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