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| Title: | N-acetylaspartylglutamate in CNS hypomyelination |
| Author(s): | Wamelink, M.M.
Struys, E.
Holwerda, U.
Sistermans, E.A. (14900107X)
Spaendonk, R.M.L. van
Halley, D.
Willemsen, M.A.A.P. (23476452X)
Jakobs, C.
Knaap, M.S. van der
Wolf, N.I. |
| Publication year: | 2011 |
| Document type: | Article / Letter to editor |
| Journal: | Neuropediatrics |
| ISSN: | 0174-304X |
| Volume: | vol. 42 |
| Issue: | iss. 2 |
| Start page: | p. 74 |
| End page: | p. 77 |
| Annotation: | Wamelink, M M C Struys, E Holwerda, U Sistermans, E A van Spaendonk, R M L Halley, D Willemsen, M A A P Jakobs, C van der Knaap, M S Wolf, N I Germany Neuropediatrics. 2011 Feb;42(2):74-7. Epub 2011 May 3. |
| Abstract: | CSF N-acetylaspartylglutamate (NAAG) has been found to be elevated in some hypomyelinating disorders. This study addressed the question whether it could be used as a marker for hypomyelination and as a means to distinguish between hypomyelinating disorders biochemically. We have measured CSF NAAG in a cohort of 28 patients with hypomyelination with known and unknown aetiology. NAAG was found to be elevated in 7 patients, but was normal in the majority, including patients with defined hypomyelinating disorders. CSF NAAG is not a universal marker of hypomyelination, and the mechanism of its elevation remains poorly understood. |
| Subject: | DCN 2: Functional Neurogenomics |
| Organization: | UMCN Extern
Human Genetics
Neurology |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/98131
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