Vanishing white matter disease associated with progressive macrocephaly

Neuropediatrics

Volumn 39, Issue 1, 2008, Pages 29-32

  Pineda, M ^a   R Palmero, A ^a   Baquero, M ^b   O'Callaghan, M ^a   Aracil, A ^a   Van Der Knaap, M ^c   Scheper, C C ^c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b Pedralbes Neuroimaging Center   (Spain)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

eIF2B; Leukoencephalopathy; Long survival; Megalencephaly

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR;

ADULT; ANAMNESIS; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEMALE; GENE MUTATION; HUMAN; MACROCEPHALY; PRIORITY JOURNAL; VANISHING WHITE MATTER DISEASE; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; EUKARYOTIC INITIATION FACTOR-2; FEMALE; FOLLOW-UP STUDIES; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; PROGNOSIS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 45149094529     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1076738     Document Type: Article

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