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 *

171 related articles for article (PubMed ID: 9600244)

  • 21. 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]  

  • 22. Molecular basis of different forms of metachromatic leukodystrophy.
    Polten A; Fluharty AL; Fluharty CB; Kappler J; von Figura K; Gieselmann V
    N Engl J Med; 1991 Jan; 324(1):18-22. PubMed ID: 1670590
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
    Li T; Huang Y; Tao C; Yin X; Su X; Shao Y; Liang C; Jiang M; Cai Y; Lin Y; Zeng C; Zhao X; Liu L; Zhang W
    Metab Brain Dis; 2024 Jun; 39(5):753-762. PubMed ID: 38775997
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
    Coulter-Mackie MB; Gagnier L
    Hum Mutat; 1998; Suppl 1():S254-6. PubMed ID: 9452102
    [No Abstract]   [Full Text] [Related]  

  • 26. Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
    Mahdieh N; Sharifi A; Rabbani A; Ashrafi M; Tavasoli AR; Badv RS; Bonkowsky JL; Rabbani B
    Clin Neurol Neurosurg; 2021 Feb; 201():106448. PubMed ID: 33385934
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
    Cesani M; Capotondo A; Plati T; Sergi LS; Fumagalli F; Roncarolo MG; Naldini L; Comi G; Sessa M; Biffi A
    Hum Mutat; 2009 Oct; 30(10):E936-45. PubMed ID: 19606494
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
    Hess B; Kafert S; Heinisch U; Wenger DA; Zlotogora J; Gieselmann V
    Hum Mutat; 1996; 7(4):311-7. PubMed ID: 8723680
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
    Halsall DJ; Halligan EP; Elsey TS; Cox TM
    Hum Mutat; 1999 Nov; 14(5):447. PubMed ID: 10533072
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
    Hasegawa Y; Kawame H; Eto Y
    DNA Cell Biol; 1993; 12(6):493-8. PubMed ID: 8101083
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.
    Yaghootfam A; Baumann N; Schwarz A; Gieselmann V
    Neurochem Res; 2004 May; 29(5):933-42. PubMed ID: 15139291
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
    Hermann S; Schestag F; Polten A; Kafert S; Penzien J; Zlotogora J; Baumann N; Gieselmann V
    Am J Med Genet; 2000 Mar; 91(1):68-73. PubMed ID: 10751093
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Molecular genetics of metachromatic leukodystrophy.
    Gieselmann V; Polten A; Kreysing J; von Figura K
    J Inherit Metab Dis; 1994; 17(4):500-9. PubMed ID: 7967499
    [TBL] [Abstract][Full Text] [Related]  

  • 37. An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.
    Regis S; Carrozzo R; Filocamo M; Serra G; Mastropaolo C; Gatti R
    Hum Genet; 1995 Aug; 96(2):233-5. PubMed ID: 7635478
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
    Kondo R; Wakamatsu N; Yoshino H; Fukuhara N; Miyatake T; Tsuji S
    Am J Hum Genet; 1991 May; 48(5):971-8. PubMed ID: 1673291
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.