197 related articles for article (PubMed ID: 8412017)
1. Canavan disease: biochemical and molecular studies.
Matalon R; Kaul R; Michals K
J Inherit Metab Dis; 1993; 16(4):744-52. PubMed ID: 8412017
[TBL] [Abstract][Full Text] [Related]
2. Canavan disease: diagnosis and molecular analysis.
Matalon R
Genet Test; 1997; 1(1):21-5. PubMed ID: 10464621
[TBL] [Abstract][Full Text] [Related]
3. Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM; Michals-Matalon K
Front Biosci; 2000 Mar; 5():D307-11. PubMed ID: 10704428
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
Matalon R; Michals K; Sebesta D; Deanching M; Gashkoff P; Casanova J
Am J Med Genet; 1988 Feb; 29(2):463-71. PubMed ID: 3354621
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Molecular basis of Canavan's disease: from human to mouse.
Surendran S; Matalon KM; Tyring SK; Matalon R
J Child Neurol; 2003 Sep; 18(9):604-10. PubMed ID: 14572138
[TBL] [Abstract][Full Text] [Related]
10. Canavan disease: a monogenic trait with complex genomic interaction.
Surendran S; Michals-Matalon K; Quast MJ; Tyring SK; Wei J; Ezell EL; Matalon R
Mol Genet Metab; 2003; 80(1-2):74-80. PubMed ID: 14567959
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.
Bennett MJ; Gibson KM; Sherwood WG; Divry P; Rolland MO; Elpeleg ON; Rinaldo P; Jakobs C
J Inherit Metab Dis; 1993; 16(5):831-6. PubMed ID: 8295397
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
Durmaz AA; Akin H; Onay H; Vahabi A; Ozkinay F
Fetal Pediatr Pathol; 2012 Aug; 31(4):236-9. PubMed ID: 22468686
[TBL] [Abstract][Full Text] [Related]
15. Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Rady PL; Penzien JM; Vargas T; Tyring SK; Matalon R
Eur J Paediatr Neurol; 2000; 4(1):27-30. PubMed ID: 10701101
[TBL] [Abstract][Full Text] [Related]
16. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
Kaul R; Gao GP; Matalon R; Aloya M; Su Q; Jin M; Johnson AB; Schutgens RB; Clarke JT
Am J Hum Genet; 1996 Jul; 59(1):95-102. PubMed ID: 8659549
[TBL] [Abstract][Full Text] [Related]
17. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ; Wang ZH; Ribeiro LA; Leone P; De Gasperi R; Kim SJ; Raghavan S; Ong E; Pastores GM; Kolodny EH
J Inherit Metab Dis; 2002 Nov; 25(7):557-70. PubMed ID: 12638939
[TBL] [Abstract][Full Text] [Related]
18. Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
Kaul R; Balamurugan K; Gao GP; Matalon R
Genomics; 1994 May; 21(2):364-70. PubMed ID: 8088831
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A case of Canavan disease with microcephaly.
Gowda VK; Bhat MD; Srinivasan VM; Prasad C; Benakappa A; Faruq M
Brain Dev; 2016 Sep; 38(8):759-62. PubMed ID: 26992473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
