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 *

180 related articles for article (PubMed ID: 8455580)

  • 1. Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
    Eto Y; Kawame H; Hasegawa Y; Ohashi T; Ida H; Tokoro T
    Mol Cell Biochem; 1993 Feb; 119(1-2):179-84. PubMed ID: 8455580
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Molecular analysis of Japanese patients with metachromatic leukodystrophy].
    Hasegawa Y; Kawame H; Eto Y
    Nihon Rinsho; 1993 Sep; 51(9):2314-8. PubMed ID: 8105116
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
    Rafi MA; Coppola S; Liu SL; Rao HZ; Wenger DA
    Mol Genet Metab; 2003 Jun; 79(2):83-90. PubMed ID: 12809637
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
    Tsuda T; Hasegawa Y; Eto Y
    Brain Dev; 1996; 18(5):400-3. PubMed ID: 8891236
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
    Tylki-Szymanska A; Berger J; Löschl B; Lugowska A; Molzer B
    Clin Genet; 1996 Nov; 50(5):287-92. PubMed ID: 9007312
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
    Qu Y; Shapira E; Desnick RJ
    Mol Genet Metab; 1999 Jul; 67(3):206-12. PubMed ID: 10381328
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
    Latham T; Grabowski GA; Theophilus BD; Smith FI
    Am J Hum Genet; 1990 Jul; 47(1):79-86. PubMed ID: 2349952
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
    Luzi P; Rafi MA; Rao HZ; Wenger DA
    Gene; 2013 Nov; 530(2):323-8. PubMed ID: 24001781
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. [Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].
    Eto Y; Hasegawa Y; Tsuda T
    Nihon Rinsho; 1995 Dec; 53(12):2994-3003. PubMed ID: 8577048
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
    Kawame H; Maekawa K; Eto Y
    Hum Mutat; 1993; 2(5):362-7. PubMed ID: 8257989
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
    Kawame H; Eto Y
    Am J Hum Genet; 1991 Dec; 49(6):1378-80. PubMed ID: 1840477
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
    Sheth J; Bhavsar R; Mistri M; Pancholi D; Bavdekar A; Dalal A; Ranganath P; Girisha KM; Shukla A; Phadke S; Puri R; Panigrahi I; Kaur A; Muranjan M; Goyal M; Ramadevi R; Shah R; Nampoothiri S; Danda S; Datar C; Kapoor S; Bhatwadekar S; Sheth F
    BMC Med Genet; 2019 Feb; 20(1):31. PubMed ID: 30764785
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.