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The neuropsychological phenotype of Chediak-Higashi disease

Abstract Background/objectives Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstructured observations rather than on formal neuropsychological...

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Hoofdauteurs: Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro, Wendy J. Introne
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2019-05-01
Reeks:Orphanet Journal of Rare Diseases
Onderwerpen:
Chediak-Higashi disease
Intellectual disability
Neuropsychology
Bone marrow transplant
Online toegang:http://link.springer.com/article/10.1186/s13023-019-1049-x
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