Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

European Journal of Paediatric Neurology

Volumn 12, Issue 4, 2008, Pages 348-350

  Sartori, Stefano ^a   Burlina, Alberto B ^b   Salviati, Leonardo ^b   Trevisson, Eva ^b   Toldo, Irene ^a   Laverda, Anna Maria ^a   Burlina, Alessandro P ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

GJA12; NAAG; Pelizaeus Merzbacher disease; Pelizaeus Merzbacher like disease; PLP1

Indexed keywords

CONNEXIN 47; N ACETYLASPARTYLGLUTAMIC ACID;

ARTICLE; CAPILLARY ELECTROPHORESIS; CASE REPORT; CEREBROSPINAL FLUID; FEMALE; GENE MUTATION; HUMAN; PELIZAEUS MERZBACHER DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CONNEXINS; DIPEPTIDES; ELECTROPHORESIS; FEMALE; GENES, RECESSIVE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MUTATION; PELIZAEUS-MERZBACHER DISEASE;

EID: 43549084841     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.07.011     Document Type: Article

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