Hypoacetylaspartia: Clinical and biochemical follow-up of a patient

Advances in Experimental Medicine and Biology

Volumn 576, Issue , 2006, Pages 283-287

  Burlina, Alessandro P ^a   Schmitt, B ^b   Engelke, U ^c   Wevers, Ron A ^c   Burlina, Alberto B ^a   Boltshauser, Eugen ^b  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84934441306     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/0-387-30172-0_20     Document Type: Conference Paper

References (10)

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2. E.V. Sullivan, E. Adalsteinsson, D.M. Spielman, R.E. Hurd, and A. Pfefferbaum, N-acetylaspartate - A marker of neuronal integrity, Ann. Neurol. 50, 823 (2001).
3. D.L. Arnold, N. de Stefano, P.M. Matthews, and B. Trapp, N-acetylaspartate: usefulness as an indicator of viable neuronal tissue, Ann. Neurol. 50, 823 (2001).
4. E. Boltshauser, B. Schmitt, R.A. Wevers, U. Engelke, A.B. Burlina and A.P. Burlina, Follow-up of a child with hypoacetylaspartia, Neuropediatrics 35, 255-258 (2004).
5. U.F.H. Engelke, M.L.F. Liebrand-Van Sambeek, J.G.N. De Jong, J.G. Leroy, E. Morava, J.A.M. Smeitink and R.A. Wevers, N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism, Clin. Chem. 50, 58-66 (2004).
6. A.P. Burlina, V. Ferrari, P. Divry, W. Gradowska, C. Jakobs, M.J. Bennett, A.C. Sewell, C. Dionisi-Vici, and A.B. Burlina, N- acetylaspartylglutamate in Canavan disease: an adverse effector ?, Eur. J. Pediatr. 158, 406-409 (1999).
7. K.F. Faull, R. Rafie, N. Pascoe, L. Marsh, and A. Pfefferbaum, N-acetyl aspartic acid (NAA) and N-acetyl aspartylglutamic acid (NAAG) in human ventricular, subarachnoid, and lumbar cerebrospinal fluid, Neurochem. Res. 24, 1249-1261 (1999).
8. V. Brovia, A. Ricciardi, and L. Barbeito, N-acetyl-aspartylglutamate (NAAG) in human cerebrospinal fluid: determination by high performance liquid chromatography, and influence of biological variables, Amino Acids 9, 175-184 (1995).
9. L.M. Gehl, O.H. Saab, T. Bzdega, B. Wroblewska, and J.H. Neale, Biosynthesis of NAAG by an enzyme-mediated process in rat central nervous system neurons and glia, J. Neurochem. 90, 989-997 (2004).
10. A.P. Burlina, V. Ferrari, L. Bonafé, and A.B. Burlina, Clinical and biochemical follow-up of a patient with Canavan disease, J. Inherit. Metab. Dis. 21(suppl. 2), 48 (1998).