Search results

Records found: 43  
Your query: Author Sysno/Doc.kind = "^sllk_un_auth k0002613 xcla^"
  1. 9. ázijsko-európsky kongres o dedičných metabolických poruchách (AEWIEM) v roku 2004 na Slovensku  / Vladimír Bzdúch .  Medicínsky monitor. - ISSN 1335-0951 . - Č. 4 (2004), s. 24  
    C 2879
    article

    article

  2. A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene  / V. Bzdúch ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 299-302  : Obr., sch., tab.  
    C 526
    article

    article

  3. A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene  / V. Bzdúch ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 320  
    C 526
    article

    article

  4. Accumulation of cytosolic NADH as the prime cause of various symptoms in deficiency of citrin, a liver-type mitochondrial aspartate glutamate carier  / Takeyori Saheki ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 333-334  
    C 526
    article

    article

  5. Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediate phenotype  / M. Elleder ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 339-340  
    C 526
    article

    article

  6. Aký bol 9. AEWIEM vo Vysokých Tatrách?  / Vladimír Bzdúch .  Medicínsky monitor. - ISSN 1335-0951 . - Č. 6 (2004), s. 45  : Obr.  
    C 2879
    article

    article

  7. Biochemical diagnosis of Niemann-Pick disease A, B and C: The important role of sphingomyelinase  / M. Dietze, Y.S. Shin .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 321  : Tab.  
    C 526
    article

    article

  8. Clinical outcome of PKU patients - correlation to the type of HPA, metabolic compensation and age  / J. Šaligová ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 334  
    C 526
    article

    article

  9. Clinical, biochemical and molecular heterogeneity of branching enzyme deficiency (Andersen disease)  / Hyunkyung Lee, Teodor Podskarbi, Yoon S. Shin .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 329  
    C 526
    article

    article

  10. Developments of neonatal screening in Taiwan  / Kwang-Jen Hsiao, Szu-Hui Chiang, Tze-Tze Liu .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 325-326  
    C 526
    article

    article


  This site uses cookies to make them easier to browse. Learn more about how we use cookies.