| "An animal model for Canavan disease is needed to study some of the questions regarding the role of NAA in brain tissue, and for the study of therapeutic modalities, including gene therapy." | ( Kaul, R; Matalon, R; Michals, K, 1995) |
| "Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase." | ( Elpeleg, ON; Shaag, A, 1999) |
| "Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy." | ( Matalon, R; Penzien, JM; Rady, PL; Tyring, SK; Vargas, T, 2000) |
| "Canavan disease is caused by mutations in aspartoacylase, the enzyme that degrades N-acetylaspartate (NAA) into acetate and aspartate." | ( Corigliano-Murphy, A; Jiang, G; Namboodiri, MA; Provencio, I; Rollag, M, 2000) |
| "Canavan disease is a devastating neurodegenerative childhood disease caused by mutations in aspartoacylase, an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain." | ( Jacobowitz, DM; Kallarakal, AT; Kirmani, BF; Namboodiri, MA, 2002) |
| "Canavan disease is an early onset leukodystrophy associated with psychomotor retardation, seizures, and premature death." | ( During, MJ; Klugmann, M; Leichtlein, CB; Serikawa, T; Symes, CW; Young, D, 2005) |
| "Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency." | ( Benbir, G; Jakobs, C; Karaarslan, E; Rolland, MO; Salomons, GS; van der Knaap, MS; Yalcinkaya, C, 2005) |
| "Canavan disease is an autosomal-recessive neurodegenerative disorder caused by a lack of aspartoacylase, the enzyme that degrades N-acetylaspartate (NAA) into acetate and aspartate." | ( Berrin, JG; Giardina, T; Herga, S; Perrier, J; Puigserver, A, 2006) |
| "Canavan disease is a childhood leukodystrophy caused by mutations in the gene for human aspartoacylase ( ASPA), which leads to an abnormal accumulation of the substrate molecule N-acetyl-aspartate (NAA) in the brain." | ( Assadi, M; Bilaniuk, L; Francis, J; Freese, A; Haselgrove, J; Hurh, P; Janson, CG; Leone, P; McPhee, SW; Shera, D; Wang, DJ, 2006) |
| "Canavan disease is a megalencephalic leukodystrophy due to deficiency of the enzyme aspartoacylase." | ( Chandrashekar, HS; Jayakumar, PN; Nagarajan, K; Srikanth, SG, 2007) |
| "Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N-acetylaspartic acid (NAA) in urine." | ( Al-Dirbashi, OY; Al-Mokhadab, MA; Al-Qahtani, K; Al-Sayed, MA; Kurdi, W; Rashed, MS, 2007) |
| "Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and blindness." | ( Purushothaman, KK; Sreenivasan, P, 2013) |
| "Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetyl-aspartate (NAA) in the brain." | ( Assadi, M; Bilaniuk, LT; During, MJ; Francis, JS; Freese, A; Goldfarb, O; Goldman, HW; Janson, CG; Kolodny, EH; Leone, P; McPhee, SW; Samulski, RJ; Shera, D; Wang, DJ; Young, D, 2012) |
| "Canavan disease is a spongiform leukodystrophy caused by an autosomal recessive mutation in the aspartoacylase gene." | ( Beyer, C; Clarner, T; Jansen, K; Kipp, M; Krauspe, B; Wieczorek, N, 2014) |
| "Canavan disease is caused by inactivating ASPA (aspartoacylase) mutations that prevent cleavage of N-acetyl-L-aspartate (NAA), resulting in marked elevations in central nervous system (CNS) NAA and progressively worsening leukodystrophy." | ( Bannerman, P; Burns, T; Freeman, E; Guo, F; Li, S; McDonough, JA; Miers, L; Mills Ko, E; Pleasure, D; Xu, J, 2015) |
| "Canavan disease is a major point of focus for efforts to define NAA function, with available evidence suggesting NAA serves as an acetyl donor for fatty acid synthesis during myelination." | ( Bilaniuk, LT; De Vivo, DC; Francis, JS; Gray, SJ; Janson, CG; Leone, P; Markov, V; McCown, TJ; Samulski, RJ; Wang, DJ; Wojtas, I, 2016) |
| "Canavan disease is a fatal neurological disorder caused by defects in the metabolism of N-acetyl-l-aspartate (NAA)." | ( Mutthamsetty, V; Thangavelu, B; Viola, RE; Wang, Q, 2017) |
| "Canavan disease is a leukodystrophy caused by aspartoacylase (ASPA) deficiency." | ( Bannerman, P; Burns, T; Croteau, C; Guo, F; McDonough, JA; Miers, L; Pleasure, D; Singhal, NK; Sohn, J, 2017) |