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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

325 related articles for article (PubMed ID: 12035837)

  • 1. Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
    Coulter-Mackie MB; Applegarth DA; Toone JR; Gagnier L; Anzarut AR; Hendson G
    Can J Neurol Sci; 2002 May; 29(2):159-63. PubMed ID: 12035837
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
    Marcão AM; Wiest R; Schindler K; Wiesmann U; Weis J; Schroth G; Miranda MC; Sturzenegger M; Gieselmann V
    Arch Neurol; 2005 Feb; 62(2):309-13. PubMed ID: 15710861
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
    Hahn AF; Gordon BA; Hinton GG; Gilbert JJ
    Ann Neurol; 1982 Jul; 12(1):33-6. PubMed ID: 6126151
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
    Comabella M; Waye JS; Raguer N; Eng B; Domínguez C; Navarro C; Borrás C; Krivit W; Montalbán X
    Ann Neurol; 2001 Jul; 50(1):108-12. PubMed ID: 11456299
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Adult-onset MLD: a gene mutation with isolated polyneuropathy.
    Felice KJ; Gomez Lira M; Natowicz M; Grunnet ML; Tsongalis GJ; Sima AA; Kaplan RF
    Neurology; 2000 Oct; 55(7):1036-9. PubMed ID: 11061266
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.
    Suzuki C; Watanabe M; Tomiyama M; Sugimoto K; Nanba E; Jackson M; Kimura T; Seino Y; Wakasaya Y; Kawarabayashi T; Miki Y; Yamamoto-Watanabe Y; Shoji M
    Eur Neurol; 2008; 60(6):310-1. PubMed ID: 18832844
    [No Abstract]   [Full Text] [Related]  

  • 7. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
    Dorboz I; Eymard-Pierre E; Kefi R; Abdelhak S; Miladi N; Boespflug-Tanguy O;
    J Neurol Sci; 2009 Dec; 287(1-2):278-80. PubMed ID: 19699491
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
    Rauschka H; Colsch B; Baumann N; Wevers R; Schmidbauer M; Krammer M; Turpin JC; Lefevre M; Olivier C; Tardieu S; Krivit W; Moser H; Moser A; Gieselmann V; Zalc B; Cox T; Reuner U; Tylki-Szymanska A; Aboul-Enein F; LeGuern E; Bernheimer H; Berger J
    Neurology; 2006 Sep; 67(5):859-63. PubMed ID: 16966551
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Metachromatic leukodystrophy without arylsulfatase A deficiency.
    Shapiro LJ; Aleck KA; Kaback MM; Itabashi H; Desnick RJ; Brand N; Stevens RL; Fluharty AL; Kihara H
    Pediatr Res; 1979 Oct; 13(10):1179-81. PubMed ID: 41211
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
    Deconinck N; Messaaoui A; Ziereisen F; Kadhim H; Sznajer Y; Pelc K; Nassogne MC; Vanier MT; Dan B
    Eur J Paediatr Neurol; 2008 Jan; 12(1):46-50. PubMed ID: 17616409
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.
    Kihara H; Ho CK; Fluharty AL; Tsay KK; Hartlage PL
    Pediatr Res; 1980 Mar; 14(3):224-7. PubMed ID: 6104322
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
    Haberlandt E; Scholl-Bürgi S; Neuberger J; Felber S; Gotwald T; Sauter R; Rostasy K; Karall D; Korinthenberg R
    Eur J Paediatr Neurol; 2009 May; 13(3):257-60. PubMed ID: 18571943
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Diagnosis of arylsulfatase A deficiency.
    Li ZG; Waye JS; Chang PL
    Am J Med Genet; 1992 Aug; 43(6):976-82. PubMed ID: 1357970
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
    Berger J; Löschl B; Bernheimer H; Lugowska A; Tylki-Szymanska A; Gieselmann V; Molzer B
    Am J Med Genet; 1997 Mar; 69(3):335-40. PubMed ID: 9096767
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
    Hreidarsson SJ; Thomas GH; Kihara H; Fluharty AL; Kolodny EH; Moser HW; Reynolds LW
    Pediatr Res; 1983 Sep; 17(9):701-4. PubMed ID: 6137805
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
    Kappler J; Sommerlade HJ; von Figura K; Gieselmann V
    Hum Mutat; 1994; 4(2):119-27. PubMed ID: 7981715
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
    Anlar B; Waye JS; Eng B; Oguz KK
    Dev Med Child Neurol; 2006 May; 48(5):383-7. PubMed ID: 16608548
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Metachromatic leukodystrophy. Late juvenile form. Review of 6 cases].
    Campistol Plana J; Colomer Orefil J; Poo Argüelles P; Vernet Bori A; Fernández Alvarez E
    An Esp Pediatr; 1983 Jul; 19(1):41-8. PubMed ID: 6139050
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.