269 related articles for article (PubMed ID: 1684088)
1. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
Fluharty AL; Fluharty CB; Bohne W; von Figura K; Gieselmann V
Am J Hum Genet; 1991 Dec; 49(6):1340-50. PubMed ID: 1684088
[TBL] [Abstract][Full Text] [Related]
2. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Pastor-Soler NM; Rafi MA; Hoffman JD; Hu D; Wenger DA
Hum Mutat; 1994; 4(3):199-207. PubMed ID: 7833949
[TBL] [Abstract][Full Text] [Related]
3. High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
Kreysing J; Bohne W; Bösenberg C; Marchesini S; Turpin JC; Baumann N; von Figura K; Gieselmann V
Am J Hum Genet; 1993 Aug; 53(2):339-46. PubMed ID: 8101038
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Kang DH; Lee DH; Hong YH; Lee ST; Jeon BR; Lee YK; Ki CS; Lee YW
Korean J Lab Med; 2010 Oct; 30(5):516-20. PubMed ID: 20890085
[TBL] [Abstract][Full Text] [Related]
5. Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
Berger J; Gmach M; Mayr U; Molzer B; Bernheimer H
Hum Mutat; 1999; 13(1):61-8. PubMed ID: 9888390
[TBL] [Abstract][Full Text] [Related]
6. Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
Shahzad MA; Khaliq S; Amar A; Mahmood S
J Mol Neurosci; 2017 Sep; 63(1):84-90. PubMed ID: 28799099
[TBL] [Abstract][Full Text] [Related]
7. [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].
Horovenko NH; Ol'khovych NV; Pichkur NO
Tsitol Genet; 2002; 36(5):43-8. PubMed ID: 12442547
[TBL] [Abstract][Full Text] [Related]
8. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
Harvey JS; Nelson PV; Carey WF; Robertson EF; Morris CP
Hum Mutat; 1993; 2(4):261-7. PubMed ID: 8104633
[TBL] [Abstract][Full Text] [Related]
9. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
Kappler J; von Figura K; Gieselmann V
Ann Neurol; 1992 Mar; 31(3):256-61. PubMed ID: 1353340
[TBL] [Abstract][Full Text] [Related]
10. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Eng B; Nakamura LN; O'Reilly N; Schokman N; Nowaczyk MM; Krivit W; Waye JS
Hum Mutat; 2003 Nov; 22(5):418-9. PubMed ID: 14517960
[TBL] [Abstract][Full Text] [Related]
11. Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
Aslan M; Kirik S; Özgör B; Güngör S
J Pediatr Endocrinol Metab; 2018 Sep; 31(9):1047-1051. PubMed ID: 30052522
[TBL] [Abstract][Full Text] [Related]
12. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Zlotogora J; Bach G; Bösenberg C; Barak Y; von Figura K; Gieselmann V
Hum Mutat; 1995; 5(2):137-43. PubMed ID: 7749412
[TBL] [Abstract][Full Text] [Related]
13. Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
Virgens MY; Siebert M; Bock H; Burin M; Giugliani R; Saraiva-Pereira ML
Gene; 2015 Aug; 568(1):69-75. PubMed ID: 25965562
[TBL] [Abstract][Full Text] [Related]
14. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Beerepoot S; van Dooren SJM; Salomons GS; Boelens JJ; Jacobs EH; van der Knaap MS; van Kuilenburg ABP; Wolf NI
Neurogenetics; 2020 Oct; 21(4):289-299. PubMed ID: 32632536
[TBL] [Abstract][Full Text] [Related]
15. Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Amr K; Fateen E; Mansour L; Tosson AM; Zaki MS; Salam GMA; Mohamed AN; El-Bassyouni HT
J Mol Neurosci; 2021 May; 71(5):1112-1130. PubMed ID: 33185815
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Olkhovich NV; Takamura N; Pichkur NA; Gorovenko NG; Aoyagi K; Yamashita S
Mol Genet Metab; 2003 Nov; 80(3):360-3. PubMed ID: 14680985
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Bertelli M; Gallo S; Buda A; Cecchin S; Fabbri A; Lapucci C; Andrighetto G; Sidoti V; Lorusso L; Pandolfo M
J Clin Neurosci; 2006 May; 13(4):443-8. PubMed ID: 16678723
[TBL] [Abstract][Full Text] [Related]
18. A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.
Lissens W; Vervoort R; Van Regemorter N; Van Bogaert P; Freund M; Verellen-Dumoulin C; Seneca S; Liebaers I
J Inherit Metab Dis; 1996; 19(6):782-6. PubMed ID: 8982952
[TBL] [Abstract][Full Text] [Related]
19. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Böhringer J; Santer R; Schumacher N; Gieseke F; Cornils K; Pechan M; Kustermann-Kuhn B; Handgretinger R; Schöls L; Harzer K; Krägeloh-Mann I; Müller I
Hum Mutat; 2017 Nov; 38(11):1511-1520. PubMed ID: 28762252
[TBL] [Abstract][Full Text] [Related]
20. An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
Regis S; Corsolini F; Ricci V; Di Duca M; Filocamo M
Eur J Hum Genet; 2004 Feb; 12(2):150-4. PubMed ID: 14571263
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
