Výsledky vyhľadávania

Nájdených záznamov: 25  
Váš dotaz: Kód záznamu = ("r028998" ALEBO "r029015" ALEBO "r029131" ALEBO "r029168" ALEBO "r029028" ALEBO "r029134" ALEBO "r029090" ALEBO "r029052" ALEBO "r029001" ALEBO "r029034" ALEBO "r029135" ALEBO "r029120" ALEBO "r029163" ALEBO "r029037" ALEBO "r029062" ALEBO "r029097" ALEBO "r029116" ALEBO "r029085" ALEBO "r029084" ALEBO "r029114" ALEBO "r029091" ALEBO "r029093" ALEBO "r029009" ALEBO "r029150" ALEBO "r029031")

  1. 1.A case of Rett syndrome from Ukraine - Clinical diagnosis confirmed by mutation analysis of the MECP2 gene

    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  
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  2. 2.A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene

    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
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  3. 3.Accumulation of cytosolic NADH as the prime cause of various symptoms in deficiency of citrin, a liver-type mitochondrial aspartate glutamate carier

    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  
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  4. 4.Acid sphingomyelinase deficiency: molecular studies of a series of 25 Czech and Slovak patients with prevalence of intermediate phenotype

    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  
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  5. 5.Biochemical diagnosis of Niemann-Pick disease A, B and C: The important role of sphingomyelinase

    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.  
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  6. 6.Clinical outcome of PKU patients - correlation to the type of HPA, metabolic compensation and age

    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
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  7. 7.Clinical, biochemical and molecular heterogeneity of branching enzyme deficiency (Andersen disease)

    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
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  8. 8.Developments of neonatal screening in Taiwan

    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  
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  9. 9.Diagnosis and management of galactosemia: An Egyptian experience

    Diagnosis and management of galactosemia: An Egyptian experience  / E. Fateen ... [et al.] .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 303-309  : Grafy  
    C 526
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  10. 10.Four enyzymes involved in mucopolysaccharidosis III (Sanfilippo syndrome): Expression in various tissue and the diagnostic possibility using leucocytes

    Four enyzymes involved in mucopolysaccharidosis III (Sanfilippo syndrome): Expression in various tissue and the diagnostic possibility using leucocytes  / L. Fischer, Y.S. Shin .  Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248 . - Vol. 105, no. 9 (2004), s. 323  
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