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7. Canavan disease: diagnosis and molecular analysis. Matalon R Genet Test; 1997; 1(1):21-5. PubMed ID: 10464621 [TBL] [Abstract][Full Text] [Related]
8. Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. Unalp A; Altiok E; Uran N; Oztürk A; Yüksel S J Trop Pediatr; 2008 Jun; 54(3):208-10. PubMed ID: 17999961 [TBL] [Abstract][Full Text] [Related]
9. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. Di Pietro V; Cavallari U; Amorini AM; Lazzarino G; Longo S; Poggiani C; Cavalli P; Tavazzi B Clin Biochem; 2013 Dec; 46(18):1902-4. PubMed ID: 24036223 [TBL] [Abstract][Full Text] [Related]
10. Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. Drenckhahn A; Schuelke M; Knierim E J Inherit Metab Dis; 2015 Sep; 38(5):983-4. PubMed ID: 25647544 [TBL] [Abstract][Full Text] [Related]
12. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. Matalon R; Rady PL; Platt KA; Skinner HB; Quast MJ; Campbell GA; Matalon K; Ceci JD; Tyring SK; Nehls M; Surendran S; Wei J; Ezell EL; Szucs S J Gene Med; 2000; 2(3):165-75. PubMed ID: 10894262 [TBL] [Abstract][Full Text] [Related]
13. An atypical case of Canavan disease with stroke-like presentation. Delaney KE; Kralik SF; Hainline BE; Golomb MR Pediatr Neurol; 2015 Feb; 52(2):218-21. PubMed ID: 25497124 [TBL] [Abstract][Full Text] [Related]
14. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Kaul R; Gao GP; Balamurugan K; Matalon R Nat Genet; 1993 Oct; 5(2):118-23. PubMed ID: 8252036 [TBL] [Abstract][Full Text] [Related]
15. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Matsuo M; Yamauchi A; Ito Y; Sakauchi M; Yamamoto T; Okamoto N; Tsurusaki Y; Miyake N; Matsumoto N; Saito K Brain Dev; 2017 Feb; 39(2):177-181. PubMed ID: 27670155 [TBL] [Abstract][Full Text] [Related]
16. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. Tacke U; Olbrich H; Sass JO; Fekete A; Horvath J; Ziyeh S; Kleijer WJ; Rolland MO; Fisher S; Payne S; Vargiami E; Zafeiriou DI; Omran H Neuropediatrics; 2005 Aug; 36(4):252-5. PubMed ID: 16138249 [TBL] [Abstract][Full Text] [Related]
17. Biochemistry and molecular biology of Canavan disease. Matalon R; Michals-Matalon K Neurochem Res; 1999 Apr; 24(4):507-13. PubMed ID: 10227683 [TBL] [Abstract][Full Text] [Related]
18. Canavan disease: from spongy degeneration to molecular analysis. Matalon R; Michals K; Kaul R J Pediatr; 1995 Oct; 127(4):511-7. PubMed ID: 7562269 [TBL] [Abstract][Full Text] [Related]