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 *

151 related articles for article (PubMed ID: 10399107)

  • 1. Molecular characterization of Polish patients with classical galactosaemia.
    Zekanowski C; Radomyska B; Bal J
    J Inherit Metab Dis; 1999 Jun; 22(5):679-82. PubMed ID: 10399107
    [No Abstract]   [Full Text] [Related]  

  • 2. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
    Bosch AM; Waterham HR; Bakker HD
    Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.
    Shin YS; Zschocke J; Das AM; Podskarbi T
    J Inherit Metab Dis; 1999 May; 22(3):327-9. PubMed ID: 10384398
    [No Abstract]   [Full Text] [Related]  

  • 4. Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
    Zekanowski C; Nowacka M; Radomyska B; Cabalska B
    J Med Screen; 2001; 8(3):132-6. PubMed ID: 11678552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [The frequency of uridyl transferase deficiency in patients with galactose intolerance].
    Fernekorn A; Fiehring C
    Dtsch Gesundheitsw; 1976 Dec; 31(52):2455-60. PubMed ID: 1009846
    [No Abstract]   [Full Text] [Related]  

  • 6. Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
    Maceratesi P; Sangiuolo F; Novelli G; Ninfali P; Magnani M; Reichardt JK; Dallapiccola B
    Hum Mutat; 1996; 8(4):369-72. PubMed ID: 8956044
    [No Abstract]   [Full Text] [Related]  

  • 7. Fruit flies and milk sugar.
    Harrington M
    Lab Anim (NY); 2010 Jul; 39(7):196. PubMed ID: 20567220
    [No Abstract]   [Full Text] [Related]  

  • 8. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.
    Benson PF; Brandt NJ; Christensen E; Fensom AH
    Clin Genet; 1979 Nov; 16(5):311-6. PubMed ID: 519903
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.
    Shin YS; Koch HG; Köhler M; Hoffmann G; Patsoura A; Podskarbi T
    J Inherit Metab Dis; 1998 Jun; 21(3):232-5. PubMed ID: 9686364
    [No Abstract]   [Full Text] [Related]  

  • 10. The genetic basis of classical galactosaemia in Polish patients.
    Jezela-Stanek A; Bauer A; Wertheim-Tysarowska K; Bal J; Rygiel AM; Sykut-Cegielska J
    Orphanet J Rare Dis; 2021 May; 16(1):239. PubMed ID: 34030713
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spontaneous pregnancy in a patient with classical galactosaemia.
    de Jongh S; Vreken P; IJst L; Wanders RJ; Jakobs C; Bakker HD
    J Inherit Metab Dis; 1999 Aug; 22(6):754-5. PubMed ID: 10472536
    [No Abstract]   [Full Text] [Related]  

  • 12. Molecular characterization of the H319Q galactosemia mutation.
    Reichardt JK; Novelli G; Dallapiccola B
    Hum Mol Genet; 1993 Mar; 2(3):325-6. PubMed ID: 8499924
    [No Abstract]   [Full Text] [Related]  

  • 13. [Classical galactosemia and the Duarte variant of transferase in a family].
    Jurcić Z; Dogan K; Rudar D; Lipovac K; Cepelak I
    Acta Med Iugosl; 1978; 32(1):93-101. PubMed ID: 645435
    [No Abstract]   [Full Text] [Related]  

  • 14. Galactosaemia and the problem of galactose toxicity.
    Schwarz V
    Biochem Soc Trans; 1975; 3(2):234-8. PubMed ID: 165990
    [No Abstract]   [Full Text] [Related]  

  • 15. Hypergonadotropic hypogonadism in two sisters with galactosaemia.
    Schwarz HP; Moser H; Schild J; Zuppinger K
    Arch Dis Child; 1984 Aug; 59(8):781-3. PubMed ID: 6433809
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
    Velázquez-Aragón J; Alcántara-Ortigoza MA; Vela-Amieva M; Monroy S; Martínez-Cruz V; Todd-Quiñones C; González-del Angel A
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S333-7. PubMed ID: 18956253
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.
    Podskarbi T; Reichardt J; Shin YS
    J Inherit Metab Dis; 1994; 17(1):149-50. PubMed ID: 8051928
    [No Abstract]   [Full Text] [Related]  

  • 18. Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
    Sommer M; Gathof BS; Podskarbi T; Giugliani R; Kleinlein B; Shin YS
    J Inherit Metab Dis; 1995; 18(5):567-76. PubMed ID: 8598637
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
    Murphy M; McHugh B; Tighe O; Mayne P; O'Neill C; Naughten E; Croke DT
    Eur J Hum Genet; 1999 Jul; 7(5):549-54. PubMed ID: 10439960
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
    Wadelius C; Lagerkvist A; Molin AK; Larsson A; von Döbeln U; Pettersson U
    Genomics; 1993 Aug; 17(2):525-6. PubMed ID: 8406510
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.