biomedicina slovenica


"GALACTOSEMIA" : 16

  1. Rubio-Agusti Ignacio; Kojović Maja
    Movement disorders in adult patients with classical galactosemia
    2013
  2. Brunskole Mojca; Lanišnik-Rižner Tea; Stojan Jure
    Encimi iz naddružine kratkoverižnih dehidrogenaz/reduktaz kot nove farmakološke tarče
    [Enzymes of the short-chain dehydrogenase/reductase superfamily s new pharmacological targets]
    2009
  3. Felc Zlata; Jereb-Kosi Mojca
    Absolutne in relativne kontraindikacije za dojenje pri otroku
    [Absolute and relative infant contraindications to breastfeeding]
    2007
  4. Karas N; Gobec L; Pfeifer V; Mlinar B; Battelino T; Lukač-Bajalo J
    Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
    2003
  5. Lukač-Bajalo Jana; Mencej Simona; Karas Nataša; Mlinar Barbara; Prodan-Žitnik Irena; Geršak Ksenija
    Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility
    2005
  6. Lukač-Bajalo J; Marc J; Mlinar B; Karas N; Kržišnik C; Battelino T
    Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
    2002
  7. Mlinar Barbara; Marc Janja; Lukač-Bajalo Jana; Karas Nataša; Battelino Tadej
    A prevalence of N314D mutation of galactose-1-phosphate uridyltransferase gene in Slovenian population
    2000
  8. Geršak Ksenija
    Prezgodnja menopavza
    2001
  9. Mlinar Barbara; Lukač-Bajalo Jana
    Genetika galaktozemij z okvaro galaktoza-1-fosfat-uridiltransferaze
    [Genetics of galactose-1-phosphate uridyltransferase deficient forms of galactosemia]
    2000
  10. Novosel-Sever Marjeta; Paro-Panjan Darja; Lukač-Bajalo Jana
    Mutation analysis of the galactose-1-phosphate uridyl transferase gene in a boy with classical galactosemia
    2000
  11. Geršak Ksenija; Meden-Vrtovec Helena
    Genetika neplodnosti pri ženski
    1998
  12. Črne-Finderle Neva
    Patofiziologija nekaterih dednih napak
    1998
  13. Kržišnik Ciril
    Vrojene presnovne motnje
    1998
  14. Markovič S; Orel R
    Jetrna obolenja pri prirojenih motnjah presnove
    1997
  15. Črne-Finderle N
    Patofiziologija nekaterih dednih napak
    1996
  16. Kržišnik C
    Vrojene presnovne motnje
    1993


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