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 *

127 related articles for article (PubMed ID: 17517531)

  • 1. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
    Park HD; Bang YL; Park KU; Kim JQ; Jeong BH; Kim YS; Song YH; Song J
    Mol Genet Metab; 2007 Jul; 91(3):234-8. PubMed ID: 17517531
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterization of galactokinase deficiency in Japanese patients.
    Asada M; Okano Y; Imamura T; Suyama I; Hase Y; Isshiki G
    J Hum Genet; 1999; 44(6):377-82. PubMed ID: 10570908
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
    Sangiuolo F; Magnani M; Stambolian D; Novelli G
    Hum Mutat; 2004 Apr; 23(4):396. PubMed ID: 15024738
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
    Singh R; Ram J; Kaur G; Prasad R
    Curr Eye Res; 2012 Oct; 37(10):949-54. PubMed ID: 22632133
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
    P S; Ebrahimi EA; Ghazala SA; D TK; R S; Priya Doss C G; Zayed H
    J Cell Biochem; 2018 Sep; 119(9):7585-7598. PubMed ID: 29893426
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
    Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J
    Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations in 13 probands with galactokinase deficiency.
    Kolosha V; Anoia E; de Cespedes C; Gitzelmann R; Shih L; Casco T; Saborio M; Trejos R; Buist N; Tedesco T; Skach W; Mitelmann O; Ledee D; Huang K; Stambolian D
    Hum Mutat; 2000; 15(5):447-53. PubMed ID: 10790206
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Early cataract formation due to galactokinase deficiency: impact of newborn screening.
    Janzen N; Illsinger S; Meyer U; Shin YS; Sander J; Lücke T; Das AM
    Arch Med Res; 2011 Oct; 42(7):608-12. PubMed ID: 22154682
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
    Reich S; Hennermann J; Vetter B; Neumann LM; Shin YS; Söling A; Mönch E; Kulozik AE
    Pediatr Res; 2002 May; 51(5):598-601. PubMed ID: 11978883
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
    Miocić S; Filocamo M; Dominissini S; Montalvo AL; Vlahovicek K; Deganuto M; Mazzotti R; Cariati R; Bembi B; Pittis MG
    Hum Mutat; 2005 Jan; 25(1):100. PubMed ID: 15605411
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
    Erdos M; Alapi K; Balogh I; Oroszlán G; Rákóczi E; Sümegi J; Maródi L
    Exp Hematol; 2006 Nov; 34(11):1517-21. PubMed ID: 17046571
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
    Hunter M; Angelicheva D; Levy HL; Pueschel SM; Kalaydjieva L
    Hum Mutat; 2001; 17(1):77-8. PubMed ID: 11139256
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
    Baronciani L; Federici AB; Cozzi G; La Marca S; Punzo M; Rubini V; Canciani MT; Mannucci PM
    Haemophilia; 2008 May; 14(3):549-55. PubMed ID: 18328061
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes.
    Soni T; Brivet M; Moatti N; Dahan N; Lemonnier A
    Clin Chim Acta; 1988 May; 174(1):101-10. PubMed ID: 3383438
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
    Slepak T; Tang M; Addo F; Lai K
    Mol Genet Metab; 2005 Nov; 86(3):360-71. PubMed ID: 16169270
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular basis of disorders of human galactose metabolism: past, present, and future.
    Novelli G; Reichardt JK
    Mol Genet Metab; 2000; 71(1-2):62-5. PubMed ID: 11001796
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.
    Kwon MJ; Kim HJ; Bang SH; Kim SH
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):679-83. PubMed ID: 18832909
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
    Schulpis KH; Thodi G; Iakovou K; Chatzidaki M; Dotsikas Y; Molou E; Triantafylli O; Loukas YL
    J Pediatr Endocrinol Metab; 2017 Jul; 30(7):775-779. PubMed ID: 28672748
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cataracts in patients heterozygous for galactokinase deficiency.
    Stambolian D; Scarpino-Myers V; Eagle RC; Hodes B; Harris H
    Invest Ophthalmol Vis Sci; 1986 Mar; 27(3):429-33. PubMed ID: 3949470
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.