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 *

150 related articles for article (PubMed ID: 11978883)

  • 1. 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]  

  • 2. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
    Hunter M; Heyer E; Austerlitz F; Angelicheva D; Nedkova V; Briones P; Gata A; de Pablo R; László A; Bosshard N; Gitzelmann R; Tordai A; Kalmar L; Szalai C; Balogh I; Lupu C; Corches A; Popa G; Perez-Lezaun A; Kalaydjieva LV
    Pediatr Res; 2002 May; 51(5):602-6. PubMed ID: 11978884
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
    Hennermann JB; Schadewaldt P; Vetter B; Shin YS; Mönch E; Klein J
    J Inherit Metab Dis; 2011 Apr; 34(2):399-407. PubMed ID: 21290184
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
    Lee JY; Padilla CD; Chua EL
    Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():66-8. PubMed ID: 11405207
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Identification of inborn errors of galactose metabolism in patients with cataracts].
    Vaca-Pacheco G; Medina C; García-Cruz D; Sánchez-Corona J; Chávez-Anaya E; Jaimes C; Hernández-Córdova A
    Arch Invest Med (Mex); 1990; 21(2):127-32. PubMed ID: 2103700
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
    Stroek K; Bouva MJ; Schielen PCJI; Vaz FM; Heijboer AC; de Jonge R; Boelen A; Bosch AM
    Mol Genet Metab; 2018 May; 124(1):50-56. PubMed ID: 29580649
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
    Hartley A; Glynn SE; Barynin V; Baker PJ; Sedelnikova SE; Verhees C; de Geus D; van der Oost J; Timson DJ; Reece RJ; Rice DW
    J Mol Biol; 2004 Mar; 337(2):387-98. PubMed ID: 15003454
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
    Kalaydjieva L; Perez-Lezaun A; Angelicheva D; Onengut S; Dye D; Bosshard NU; Jordanova A; Savov A; Yanakiev P; Kremensky I; Radeva B; Hallmayer J; Markov A; Nedkova V; Tournev I; Aneva L; Gitzelmann R
    Am J Hum Genet; 1999 Nov; 65(5):1299-307. PubMed ID: 10521295
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].
    Thalhammer O; Scheibenreiter S; Knoll E; Wehle E
    Klin Padiatr; 1980 Nov; 192(6):613-9. PubMed ID: 6452554
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Galactokinase deficiency].
    Colin J; Voyer M; Thomas D; Charlas J
    Ann Pediatr (Paris); 1976 May; 23(5):371-7. PubMed ID: 16104211
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.