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 *

105 related articles for article (PubMed ID: 15775761)

  • 1. Neonatal screening, clinical features and genetic testing for galactosemia.
    Zaffanello M; Zamboni G; Schadewaldt P; Borgiani P; Novelli G
    Genet Med; 2005 Mar; 7(3):211-2. PubMed ID: 15775761
    [No Abstract]   [Full Text] [Related]  

  • 2. Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
    Item C; Hagerty BP; Mühl A; Greber-Platzer S; Stöckler-Ipsiroglu S; Strobl W
    Pediatr Res; 2002 Apr; 51(4):511-6. PubMed ID: 11919338
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
    Dobrowolski SF; Banas RA; Suzow JG; Berkley M; Naylor EW
    J Mol Diagn; 2003 Feb; 5(1):42-7. PubMed ID: 12552079
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
    Viggiano E; Marabotti A; Burlina AP; Cazzorla C; D'Apice MR; Giordano L; Fasan I; Novelli G; Facchiano A; Burlina AB
    Gene; 2015 Apr; 559(2):112-8. PubMed ID: 25592817
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Galactosemia].
    Grodzka Z; Zbieg-Sendecka E
    Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
    Schulpis KH; Thodi G; Chatzidaki M; Iakovou K; Molou E; Dotsikas Y; Loukas YL
    J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1119-1120. PubMed ID: 28902631
    [No Abstract]   [Full Text] [Related]  

  • 7. Negative screening tests in classical galactosaemia caused by S135L homozygosity.
    Crushell E; Chukwu J; Mayne P; Blatny J; Treacy EP
    J Inherit Metab Dis; 2009 Jun; 32(3):412-5. PubMed ID: 19418241
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.
    Ounap K; Joost K; Temberg T; Krabbi K; Tõnisson N
    J Inherit Metab Dis; 2010 Apr; 33(2):175-6. PubMed ID: 20151200
    [No Abstract]   [Full Text] [Related]  

  • 9. Galactosaemia: relationship of IQ to biochemical control and genotype.
    Cleary MA; Heptinstall LE; Wraith JE; Walter JH
    J Inherit Metab Dis; 1995; 18(2):151-2. PubMed ID: 7564232
    [No Abstract]   [Full Text] [Related]  

  • 10. [Galactosemia].
    Ohtake A; Amemiya S
    Nihon Rinsho; 2006 Sep; Suppl 3():215-9. PubMed ID: 17022534
    [No Abstract]   [Full Text] [Related]  

  • 11. [Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
    Yang RL; Tong F; Hong F; Qian GL; Wu DW; Zhao ZY
    Zhonghua Er Ke Za Zhi; 2017 Feb; 55(2):104-109. PubMed ID: 28173647
    [No Abstract]   [Full Text] [Related]  

  • 12. [Organization of a screening program for congenital metabolic disorders in newborn infants in Berlin--problems, results and experiences. 1. Screening tests for classical galactosemia].
    Ahlbehrendt I; Wagenknecht C
    Z Med Lab Diagn; 1977 Dec; 18(6):350-5. PubMed ID: 607656
    [No Abstract]   [Full Text] [Related]  

  • 13. [Clinical and biochemical diagnosis of galactosemia among our cases].
    Bozkowa K; Zbieg-Sendecka E; Grodzka Z; Cabalska B
    Probl Med Wieku Rozwoj; 1979; 8():63-9. PubMed ID: 263527
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Galactosemia: when is it a newborn screening emergency?
    Berry GT
    Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A mouse model of galactose-1-phosphate uridyl transferase deficiency.
    Leslie ND; Yager KL; McNamara PD; Segal S
    Biochem Mol Med; 1996 Oct; 59(1):7-12. PubMed ID: 8902187
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A founder noncoding GALT variant interfering with splicing causes galactosemia.
    Latchman K; Brown J; Sineni CJ; Ragin-Dames L; Guo S; Huang J; Thorson W; Hacker S; Barbouth D; Tekin M; Bademci G
    J Inherit Metab Dis; 2020 Nov; 43(6):1199-1204. PubMed ID: 32748411
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Insights into the pathogenesis of galactosemia.
    Leslie ND
    Annu Rev Nutr; 2003; 23():59-80. PubMed ID: 12704219
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
    Liu Y; Sidhu A; Bean LH; Conway RL; Fridovich-Keil JL
    Clin Chim Acta; 2015 Jun; 446():171-4. PubMed ID: 25920691
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GALT Deficiency Galactosemia.
    Anderson S
    MCN Am J Matern Child Nurs; 2018; 43(1):44-51. PubMed ID: 29215423
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
    Ohlsson A; Hunt M; Wedell A; von Döbeln U
    J Inherit Metab Dis; 2019 Sep; 42(5):1008-1018. PubMed ID: 31194895
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.