These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry. Al-Dirbashi OY; Kurdi W; Imtiaz F; Ahmad AM; Al-Sayed M; Tulbah M; Al-Nemer M; Rashed MS Prenat Diagn; 2009 May; 29(5):477-80. PubMed ID: 19235826 [TBL] [Abstract][Full Text] [Related]
4. Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis. Elpeleg ON; Shaag A; Anikster Y; Jakobs C J Inherit Metab Dis; 1994; 17(6):664-6. PubMed ID: 7707689 [TBL] [Abstract][Full Text] [Related]
6. Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. Jakobs C; ten Brink HJ; Langelaar SA; Zee T; Stellaard F; Macek M; Srsnová K; Srsen S; Kleijer WJ J Inherit Metab Dis; 1991; 14(5):653-60. PubMed ID: 1779610 [TBL] [Abstract][Full Text] [Related]
7. Canavan disease: a review of recent developments. Gordon N Eur J Paediatr Neurol; 2001; 5(2):65-9. PubMed ID: 11589315 [TBL] [Abstract][Full Text] [Related]
8. Canavan disease: diagnosis and molecular analysis. Matalon R Genet Test; 1997; 1(1):21-5. PubMed ID: 10464621 [TBL] [Abstract][Full Text] [Related]
9. Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Tavazzi B; Lazzarino G; Leone P; Amorini AM; Bellia F; Janson CG; Di Pietro V; Ceccarelli L; Donzelli S; Francis JS; Giardina B Clin Biochem; 2005 Nov; 38(11):997-1008. PubMed ID: 16139832 [TBL] [Abstract][Full Text] [Related]
10. [Canavan disease or N-acetyl aspartic aciduria: a case report]. Boughamoura L; Chaabane F; Tilouche S; Chabchoub I; Kabachi N; Tlili K; Yacoub M; Essoussi AS Arch Pediatr; 2007 Feb; 14(2):173-6. PubMed ID: 17196380 [TBL] [Abstract][Full Text] [Related]
11. Canavan disease prenatal diagnosis and genetic counseling. Matalon R; Matalon KM Obstet Gynecol Clin North Am; 2002 Jun; 29(2):297-304. PubMed ID: 12108830 [TBL] [Abstract][Full Text] [Related]
12. Prenatal detection of Canavan disease. Ozand PT; Feryal RR; Gascon GG; Gleispach H; al Aqeel A; Cook JD; Nester MJ; al Odaib A; Leis HJ Lancet; 1991 Mar; 337(8743):735-6. PubMed ID: 1672203 [No Abstract] [Full Text] [Related]
13. 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]
15. Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion. Moreno A; Ross BD; Blüml S J Neurochem; 2001 Apr; 77(1):347-50. PubMed ID: 11279290 [TBL] [Abstract][Full Text] [Related]
17. Radiological clue to diagnosis of Canavan disease. Sreenivasan P; Purushothaman KK Indian J Pediatr; 2013 Jan; 80(1):75-7. PubMed ID: 22660905 [TBL] [Abstract][Full Text] [Related]
18. Early diagnosis of Canavan syndrome: how can we get there? De Bernardo G; Giordano M; Sordino D; Buono S BMJ Case Rep; 2015 Aug; 2015():. PubMed ID: 26245283 [TBL] [Abstract][Full Text] [Related]