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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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Dades bibliogràfiques
Publicat a:Neurology
Autors principals: 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
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2017
Matèries:
Accés en línia: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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